المؤلفون: Cope, Heidi L., Milko, Laura V., Jalazo, Elizabeth R., Crissman, Blythe G., Foreman, Ann Katherine M., Powell, Bradford C., deJong, Neal A., Hunter, Jessica Ezzell, Boyea, Beth Lincoln, Forsythe, Ana N., Wheeler, Anne C., Zimmerman, Rebekah S., Suchy, Sharon F., Begtrup, Amber, Langley, Katherine G., Monaghan, Kristin G., Kraczkowski, Christina, Hruska, Kathleen S., Kruszka, Paul, Kucera, Katerina S., Berg, Jonathan S., Powell, Cynthia M., Peay, Holly L.

المساهمون: Juvenile Diabetes Research Foundation United States of America, John Merck Fund, Janssen Pharmaceuticals Inc, National Institutes of Health, Orchard Therapeutics, Leona M. and Harry B. Helmsley Charitable Trust, National Center for Advancing Translational Sciences

المصدر: Genetics in Medicine ; volume 26, issue 12, page 101290 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101290
https://api.elsevier.com/content/article/PII:S1098360024002247?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024002247?httpAccept=text/plain

المؤلفون: Ng, Bobby G, Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A, Barone, Rita, Botto, Lorenzo D, Burton, Jennifer E, Carlston, Colleen, Chung, Brian Hon‐Yin, Cohen, Julie S, Coman, David, Dipple, Katrina M, Dorrani, Naghmeh, Dobyns, William B, Elias, Abdallah F, Epstein, Leon, Gahl, William A, Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E, Hunter, Jesse M, Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher CY, McKnight, Dianalee, Mendelsohn, Bryce A, Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F, Olczak, Mariusz, Palmer, Christina GS, Partikian, Arthur, Patterson, Marc C, Pierson, Tyler M, Quinonez, Shane C, Regan, Brigid M, Ross, M Elizabeth, Sacoto, Maria J Guillen, Scaglia, Fernando, Scheffer, Ingrid E, Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D, Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A, Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F, Rosenfeld, Jill A, Edmondson, Andrew C, Grunewald, Stephanie, Freeze, Hudson H

المصدر: Human Mutation. 40(7)

مصطلحات موضوعية: Clinical Research, Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Animals, Biopsy, CHO Cells, Cells, Cultured, Congenital Disorders of Glycosylation, Cricetulus, Female, Humans, Male, Monosaccharide Transport Proteins, Mutation, Uridine Diphosphate Galactose, congenital disorders of glycosylation, glycoside, nucleotide sugar transporter, UDP-galactose, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/48w6q46x

المؤلفون: Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise M., Suchy, Sharon F., Begtrup, Amber, Langley, Katherine G., Hernan, Rebecca, Amendola, Laura M., Boyd, Brenna M., Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian L., Coffey, Alison J., Devaney, Joseph M., Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsay L., Gyimah, Awura, Hahn, Sihoun, Hofherr, Sean

المصدر: JAMA: Journal of the American Medical Association; 1/21/2025, Vol. 333 Issue 3, p232-240, 9p

مصطلحات موضوعية: NEWBORN screening, INFORMED consent (Medical law), MEDICAL screening, NUCLEOTIDE sequencing, RACE

المؤلفون: Ng, Bobby G, Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N, Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B, AlAsmari, Ali, Suchy, Sharon F, Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A, Kronn, David F, Freeze, Hudson H

المصدر: American Journal of Human Genetics. 102(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Genetics, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Alleles, Alternative Splicing, Cells, Cultured, Child, Child, Preschool, Fatal Outcome, Female, Fibroblasts, Fucose, Fucosyltransferases, Glycosylation, Humans, Lectins, Male, Mutation, Polysaccharides, RNA, Messenger, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4sd9j38b

المؤلفون: Bai, Renkui, Cui, Hong, Devaney, Joseph M., Allis, Katrina M., Balog, Amanda M., Liu, Xinyue, Schnur, Rhonda E., Shapiro, Faye L., Brautbar, Ariel, Estrada-Veras, Juvianee I., Hochstetler, Laurel, McConkie-Rosell, Allyn, McDonald, Marie T., Solomon, Benjamin D., Hofherr, Sean, Richard, Gabriele, Suchy, Sharon F.

المصدر: Genetics in Medicine ; volume 23, issue 8, page 1514-1521 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01166-1
https://www.nature.com/articles/s41436-021-01166-1.pdf
https://www.nature.com/articles/s41436-021-01166-1
https://api.elsevier.com/content/article/PII:S109836002105070X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002105070X?httpAccept=text/plain

المؤلفون: Hiatt, Susan, M, Neu, Matthew, B, Ramaker, Ryne, C, Hardigan, Andrew, A, Prokop, Jeremy, W, Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight, K C, Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro, D, Suchy, Sharon, F, Willaert, Rebecca, Wentzensen, Ingrid, M, Wheeler, Patricia, G, Brick, Lauren, Kozenko, Mariya, Hurst, Anna, C E, Wheless, James, W, Lacassie, Yves, Myers, Richard, M, Barsh, Gregory, S, Sedlacek, Zdenek, Cooper, Gregory, M

المساهمون: HudsonAlpha Institute for Biotechnology Huntsville, AL, University of Alabama at Birmingham Birmingham (UAB), Michigan State University East Lansing, Michigan State University System, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), University Hospital Motol Prague, University of Chemistry and Technology Prague (UCT Prague), Ambry Genetics Aliso Viejo, CA, USA, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Groupe de Recherche Clinique : Génétique des Déficiences Intellectuelles de Causes Rares (associées ou non aux Troubles du Spectre Autistique) (GRC 9), Sorbonne Université (SU), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Columbia University Medical Center (CUMC), Columbia University New York, GeneDx Gaithersburg, MD, USA, McMaster University Hamilton, Ontario, The University of Tennessee Health Science Center Memphis (UTHSC), Louisiana State University (LSU)

المصدر: ISSN: 1553-7390.

مصطلحات موضوعية: MESH: Developmental Disabilities, MESH: Facies, MESH: Mutation, Missense, MESH: Phenotype, MESH: Protein Conformation, MESH: Protein Interaction Domains and Motifs, MESH: ral GTP-Binding Proteins, MESH: ras Proteins, MESH: Genotype, MESH: Guanosine Diphosphate, MESH: Guanosine Triphosphate, MESH: Humans, MESH: Intellectual Disability, MESH: Mitochondrial Proteins, MESH: Models, Molecular, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/30500825; hal-04517713; https://hal.science/hal-04517713; https://hal.science/hal-04517713/document; https://hal.science/hal-04517713/file/document.pdf; PUBMED: 30500825; PUBMEDCENTRAL: PMC6291162

الاتاحة: https://hal.science/hal-04517713
https://hal.science/hal-04517713/document
https://hal.science/hal-04517713/file/document.pdf
https://doi.org/10.1371/journal.pgen.1007671

المؤلفون: Hiatt, Susan M., Neu, Matthew B., Ramaker, Ryne C., Hardigan, Andrew A., Prokop, Jeremy W., Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K. C., Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D., Suchy, Sharon F., Willaert, Rebecca, Wentzensen, Ingrid M., Wheeler, Patricia G., Brick, Lauren, Kozenko, Mariya, Hurst, Anna C. E., Wheless, James W., Lacassie, Yves, Myers, Richard M., Barsh, Gregory S., Sedlacek, Zdenek, Cooper, Gregory M.

مصطلحات موضوعية: Genetics, Developmental disabilities--Genetic aspects, Guanosine triphosphatase, Recombinant proteins

Relation: https://doi.org/10.7916/d8-5ypz-fd95

الاتاحة: https://doi.org/10.7916/d8-5ypz-fd95

المؤلفون: Senanayake, Danika Nadeen, Jasinge, Eresha A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry

المصدر: Molecular Genetics and Metabolism Reports ; volume 11, page 95 ; ISSN 2214-4269

الاتاحة: https://doi.org/10.1016/j.ymgmr.2016.04.001
https://api.elsevier.com/content/article/PII:S221442691630026X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S221442691630026X?httpAccept=text/plain

المؤلفون: Senanayake, Danika Nadeen, Jasinge, Eresha. A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry

المساهمون: Safra Research Fund, Henry Ford Hospital

المصدر: Molecular Genetics and Metabolism Reports ; volume 2, page 81-84 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2015.01.005
https://api.elsevier.com/content/article/PII:S2214426915000075?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426915000075?httpAccept=text/plain

المؤلفون: Hoopes, Richard R., Shrimpton, Antony E., Knohl, Stephen J., Hueber, Paul, Hoppe, Bernd, Matyus, Janos, Simckes, Ari, Tasic, Velibor, Toenshoff, Burkhard, Suchy, Sharon F., Nussbaum, Robert L., Scheinman, Steven J.

المصدر: The American Journal of Human Genetics ; volume 76, issue 2, page 260-267 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/427887
https://api.elsevier.com/content/article/PII:S0002929707625774?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707625774?httpAccept=text/plain

المؤلفون: Hellsten, Elina, Bernard, David J., Owens, Jennie W., Eckhaus, Michael, Suchy, Sharon F., Nussbaum, Robert L.

المصدر: Biology of Reproduction ; volume 66, issue 5, page 1522-1530 ; ISSN 0006-3363 1529-7268

مصطلحات موضوعية: Cell Biology, General Medicine, Reproductive Medicine

الاتاحة: http://dx.doi.org/10.1095/biolreprod66.5.1522
http://academic.oup.com/biolreprod/article-pdf/66/5/1522/10647415/biolreprod1522.pdf

المؤلفون: Suchy, Sharon F., Nussbaum, Robert L.

المصدر: The American Journal of Human Genetics ; volume 71, issue 6, page 1420-1427 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/344517
https://api.elsevier.com/content/article/PII:S0002929707608623?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707608623?httpAccept=text/plain

المؤلفون: Dressman, Marlene Armitage, Olivos-Glander, Isabelle M., Nussbaum, Robert L., Suchy, Sharon F.

المصدر: Journal of Histochemistry & Cytochemistry ; volume 48, issue 2, page 179-189 ; ISSN 0022-1554 1551-5044

الاتاحة: http://dx.doi.org/10.1177/002215540004800203
http://journals.sagepub.com/doi/pdf/10.1177/002215540004800203
http://journals.sagepub.com/doi/full-xml/10.1177/002215540004800203

المؤلفون: Ng, Bobby G., Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A., Barone, Rita, Botto, Lorenzo D., Burton, Jennifer E., Carlston, Colleen, Chung, Brian Hon‐yin, Cohen, Julie S., Coman, David, Dipple, Katrina M., Dorrani, Naghmeh, Dobyns, William B., Elias, Abdallah F., Epstein, Leon, Gahl, William A., Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E., Hunter, Jesse M., Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher C.Y., McKnight, Dianalee, Mendelsohn, Bryce A., Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F., Olczak, Mariusz, Palmer, Christina G.S., Partikian, Arthur, Patterson, Marc C., Pierson, Tyler M., Quinonez, Shane C., Regan, Brigid M., Ross, M. Elizabeth, Guillen Sacoto, Maria J., Scaglia, Fernando, Scheffer, Ingrid E., Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D., Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A., Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F., Rosenfeld, Jill A., Edmondson, Andrew C., Grunewald, Stephanie, Freeze, Hudson H.

مصطلحات موضوعية: congenital disorders of glycosylation, glycoside, nucleotide sugar transporter, UDPâ galactose, Genetics, Health Sciences, Science

وصف الملف: application/pdf

Relation: Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C.Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G.S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zöe; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H. (2019). "SLC35A2â CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals." Human Mutation 40(7): 908-925.; https://hdl.handle.net/2027.42/150498; Human Mutation; Brandli, A. W., Hansson, G. C., Rodriguezâ Boulan, E., & Simons, K. ( 1988 ). A polarized epithelial cell mutant deficient in translocation of UDPâ galactose into the Golgi complex. Journal of Biological Chemistry, 263 ( 31 ), 16283 â 16290.; Allen, R. C., Zoghbi, H. Y., Moseley, A. B., Rosenblatt, H. M., & Belmont, J. W. ( 1992 ). Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgenâ receptor gene correlates with X chromosome inactivation. American Journal of Human Genetics, 51 ( 6 ), 1229 â 1239.; EuroEPINOMICSâ RES Consortium, Epilepsy Phenome/Genome Project, & Epi4K Consortium ( 2014 ). De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. American Journal of Human Genetics, 95 ( 4 ), 360 â 370. https://doi.org/10.1016/j.ajhg.2014.08.013; Etchison, J. R., Srikrishna, G., & Freeze, H. H. ( 1995 ). A novel method to coâ localize glycosaminoglycanâ core oligosaccharide glycosyltransferases in rat liver Golgi. Coâ localization of galactosyltransferase I with a sialyltransferase. Journal of Biological Chemistry, 270 ( 2 ), 756 â 764.; Etchison, J. R., & Freeze, H. H. ( 1996 ). A new approach to mapping coâ localization of multiple glycosyl transferases in functional Golgi preparations. Glycobiology, 6 ( 2 ), 177 â 189.; Dorre, K., Olczak, M., Wada, Y., Sosicka, P., Gruneberg, M., Reunert, J., & Marquardt, T. ( 2015 ). A new case of UDPâ galactose transporter deficiency (SLC35A2â CDG): Molecular basis, clinical phenotype, and therapeutic approach. Journal of Inherited Metabolic Disease, 38 ( 5 ), 931 â 940. https://doi.org/10.1007/s10545â 015â 9828â 6; Deutscher, S. L., Nuwayhid, N., Stanley, P., Briles, E. I., & Hirschberg, C. B. ( 1984 ). Translocation across Golgi vesicle membranes: A CHO glycosylation mutant deficient in CMPâ sialic acid transport. Cell, 39 ( 2 Pt 1 ), 295 â 299.; Bruneel, A., Cholet, S., Drouinâ Garraud, V., Jacquemont, M. L., Cano, A., Megarbane, A., & Fenaille, F. ( 2018 ). Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. Electrophoresis, 39, 3123 â 3132. https://doi.org/10.1002/elps.201800021; Brockhausen, I., & Stanley, P. ( 2015 ). Oâ GalNAc glycans. In A. Varki, R. D. Cummings, J. D. Esko, P. Stanley, G. W. Hart, M. Aebi, & P. H. Seeberger (Eds.), Essentials of Glycobiology ( pp. 113 â 123 ). New York, NY: Cold Spring Harbor.; Bosch, D. G., Boonstra, F. N., de Leeuw, N., Pfundt, R., Nillesen, W. M., de Ligt, J., & de Vries, B. B. ( 2016 ). Novel genetic causes for cerebral visual impairment. European Journal of Human Genetics, 24 ( 5 ), 660 â 665. https://doi.org/10.1038/ejhg.2015.186; Yates, T. M., Suri, M., Desurkar, A., Lesca, G., Wallgrenâ Pettersson, C., Hammer, T. B., & Balasubramanian, M. ( 2018 ). SLC35A2â related congenital disorder of glycosylation: Defining the phenotype. European Journal of Paediatric Neurology, 22, 1095 â 1102. https://doi.org/10.1016/j.ejpn.2018.08.002; Xia, B., Zhang, W., Li, X., Jiang, R., Harper, T., Liu, R., & He, M. ( 2013 ). Serum Nâ glycan and Oâ glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. Analytical Biochemistry, 442 ( 2 ), 178 â 185. https://doi.org/10.1016/j.ab.2013.07.037; Winawer, M. R., Griffin, N. G., Samanamud, J., Baugh, E. H., Rathakrishnan, D., Ramalingam, S., & Heinzen, E. L. ( 2018 ). Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Annals of Neurology, 83 ( 6 ), 1133 â 1146. https://doi.org/10.1002/ana.25243; Westenfield, K., Sarafoglou, K., Speltz, L. C., Pierpont, E. I., Steyermark, J., Nascene, D., & Pierpont, M. E. ( 2018 ). Mosaicism of the UDPâ Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: A case report. BMC Medical Genetics, 19 ( 1 ), 100. https://doi.org/10.1186/s12881â 018â 0617â 6; Vals, M. A., Ashikov, V., Ilves, P., Loorits, D., Zeng, Q., Â Barone, R., & Ounap, K. ( 2019 ). Clinical, neuroradiological, and biochemical features of SLC35A2â CDG patients. J Inherit Metab Dis. https://doi.org/10.1002/jimd.12055; Toma, L., Pinhal, M. A., Dietrich, C. P., Nader, H. B., & Hirschberg, C. B. ( 1996 ). Transport of UDPâ galactose into the Golgi lumen regulates the biosynthesis of proteoglycans. Journal of Biological Chemistry, 271 ( 7 ), 3897 â 3901.; Stanley, P., Taniguchi, N., & Aebi, M. ( 2015 ). Nâ Glycans. In A. Varki, R. D. Cummings, J. D. Esko, P. Stanley, G. W. Hart, M. Aebi, A. G. Darvill, T. Kinoshita, N. H. Packer, J. H. Prestegard, R. L. Schnaar, & P. H. Seeberger (Eds.), Essentials of Glycobiology ( pp. 99 â 111 ). NY: Cold Spring Harbor.; Stanley, P. ( 1981 ). Selection of specific wheat germ agglutininâ resistant (WgaR) phenotypes from Chinese hamster ovary cell populations containing numerous lecR genotypes. Molecular and Cellular Biology, 1 ( 8 ), 687 â 696.; Sosicka, P., Bazan, B., Maszczakâ Seneczko, D., Shauchuk, Y., Olczak, T., & Olczak, M. ( 2019 ). SLC35A5 protein â A golgi complex member with putative nucleotide sugar transport activity. Int J Mol Sci, 20 ( 2 ), 276. https://doi.org/.org/10.3390/ijms20020276; Sosicka, P., Maszczakâ Seneczko, D., Bazan, B., Shauchuk, Y., Kaczmarek, B., & Olczak, M. ( 2017 ). An insight into the orphan nucleotide sugar transporter SLC35A4. Biochimica et Biophysica Acta, Molecular Cell Research, 1864 ( 5 ), 825 â 838. https://doi.org/10.1016/j.bbamcr.2017.02.002; Sosicka, P., Jakimowicz, P., Olczak, T., & Olczak, M. ( 2014 ). Short Nâ terminal region of UDPâ galactose transporter (SLC35A2) is crucial for galactosylation of Nâ glycans. Biochemical and Biophysical Research Communications, 454 ( 4 ), 486 â 492. https://doi.org/10.1016/j.bbrc.2014.10.098; Sim, N. S., Seo, Y., Lim, J. S., Kim, W. K., Son, H., Kim, H. D., & Lee, J. H. ( 2018 ). Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant Nâ glycosylation. Neurology: Genetics, 4 ( 6 ), e294. https://doi.org/10.1212/NXG.0000000000000294; Schnaar, R. L., & Kinoshita, T. ( 2015 ). Glycosphingolipids. In A. Varki, R. D. Cummings, J. D. Esko, P. Stanley, G. W. Hart, M. Aebi, A. G. Darvill, T. Kinoshita, N. H. Packer, J. H. Prestegard, R. L. Schnaar, & P. H. Seeberger (Eds.), Essentials of Glycobiology ( pp. 125 â 135 ). NY: Cold Spring Harbor.; Sarkar, A. K., Rostand, K. S., Jain, R. K., Matta, K. L., & Esko, J. D. ( 1997 ). Fucosylation of disaccharide precursors of sialyl LewisX inhibit selectinâ mediated cell adhesion. Journal of Biological Chemistry, 272 ( 41 ), 25608 â 25616.; Sarkar, A. K., Fritz, T. A., Taylor, W. H., & Esko, J. D. ( 1995 ). Disaccharide uptake and priming in animal cells: Inhibition of sialyl Lewis X by acetylated Gal beta 1â >4GlcNAc betaâ Oâ naphthalenemethanol. Proceedings of the National Academy of Sciences of the United States of America, 92 ( 8 ), 3323 â 3327.; Portner, A., Etchison, J. R., Sampath, D., & Freeze, H. H. ( 1996 ). Human melanoma and Chinese hamster ovary cells galactosylate nâ alkylâ betaâ glucosides using UDP gal:GlcNAc beta 1,4 galactosyltransferase. Glycobiology, 6 ( 1 ), 7 â 13.; Parker, J. L., & Newstead, S. ( 2017 ). Structural basis of nucleotide sugar transport across the Golgi membrane. Nature, 551 ( 7681 ), 521 â 524. https://doi.org/10.1038/nature24464; Olczak, M., & Guillen, E. ( 2006 ). Characterization of a mutation and an alternative splicing of UDPâ galactose transporter in MDCKâ RCAr cell line. Biochimica et Biophysica Acta/General Subjects, 1763 ( 1 ), 82 â 92. https://doi.org/10.1016/j.bbamcr.2005.12.006; Oelmann, S., Stanley, P., & Gerardyâ Schahn, R. ( 2001 ). Point mutations identified in Lec8 Chinese hamster ovary glycosylation mutants that inactivate both the UDPâ galactose and CMPâ sialic acid transporters. Journal of Biological Chemistry, 276 ( 28 ), 26291 â 26300. https://doi.org/10.1074/jbc.M011124200; Ng, B. G., Buckingham, K. J., Raymond, K., Kircher, M., Turner, E. H., He, M., & Freeze, H. H. ( 2013 ). Mosaicism of the UDPâ galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American Journal of Human Genetics, 92 ( 4 ), 632 â 636. https://doi.org/10.1016/j.ajhg.2013.03.012; Ng, B. G., & Freeze, H. H. ( 2018 ). Perspectives on glycosylation and Its congenital disorders. Trends in Genetics, 34 ( 6 ), 466 â 476. https://doi.org/10.1016/j.tig.2018.03.002; Miura, N., Ishida, N., Hoshino, M., Yamauchi, M., Hara, T., Ayusawa, D., & Kawakita, M. ( 1996 ). Human UDPâ galactose translocator: Molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDPâ galactose translocator. Journal of Biochemistry, 120 ( 2 ), 236 â 241.; Maszczakâ Seneczko, D., Olczak, T., Jakimowicz, P., & Olczak, M. ( 2011 ). Overexpression of UDPâ GlcNAc transporter partially corrects galactosylation defect caused by UDPâ Gal transporter mutation. FEBS Letters, 585 ( 19 ), 3090 â 3094. https://doi.org/10.1016/j.febslet.2011.08.038; Maszczakâ Seneczko, D., Olczak, T., Wunderlich, L., & Olczak, M. ( 2011 ). Comparative analysis of involvement of UGT1 and UGT2 splice variants of UDPâ galactose transporter in glycosylation of macromolecules in MDCK and CHO cell lines. Glycoconjugate Journal, 28 ( 7 ), 481 â 492. https://doi.org/10.1007/s10719â 011â 9348â z; de Lonlay, P., Seta, N., Barrot, S., Chabrol, B., Drouin, V., Gabriel, B. M., & Cormierâ Daire, V. ( 2001 ). A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases. Journal of Medical Genetics, 38 ( 1 ), 14 â 19.; Lindahl, U., Couchman, J., Kimata, K., & Esko, J. D. ( 2015 ). Proteoglycans and sulfated glycosaminoglycans. In A. Varki, R. D. Cummings, J. D. Esko, P. Stanley, G. W. Hart, M. Aebi, A. G. Darvill, T. Kinoshita, N. H. Packer, J. H. Prestegard, R. L. Schnaar, & P. H. Seeberger (Eds.), Essentials of Glycobiology ( pp. 207 â 221 ). New York, NY: Cold Spring Harbor.; Lelieveld, S. H., Reijnders, M. R., Pfundt, R., Yntema, H. G., Kamsteeg, E. J., de Vries, P., & Gilissen, C. ( 2016 ). Metaâ analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience, 19 ( 9 ), 1194 â 1196. https://doi.org/10.1038/nn.4352; Lacey, J. M., Bergen, H. R., Magera, M. J., Naylor, S., & O’Brien, J. F. ( 2001 ). Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. Clinical Chemistry, 47 ( 3 ), 513 â 518.; Kodera, H., Nakamura, K., Osaka, H., Maegaki, Y., Haginoya, K., Mizumoto, S., & Saitsu, H. ( 2013 ). De novo mutations in SLC35A2 encoding a UDPâ galactose transporter cause earlyâ onset epileptic encephalopathy. Human Mutation, 34 ( 12 ), 1708 â 1714. https://doi.org/10.1002/humu.22446; Kircher, M., Witten, D. M., Jain, P., O’Roak, B. J., Cooper, G. M., & Shendure, J. ( 2014 ). A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics, 46 ( 3 ), 310 â 315. https://doi.org/10.1038/ng.2892; Kimizu, T., Takahashi, Y., Oboshi, T., Horino, A., Koike, T., Yoshitomi, S., & Imai, K. ( 2017 ). A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. Brain and Development, 39 ( 3 ), 256 â 260. https://doi.org/10.1016/j.braindev.2016.09.009; Kim, S., Miura, Y., Etchison, J. R., & Freeze, H. H. ( 2001 ). Intact Golgi synthesize complex branched Oâ linked chains on glycoside primers: Evidence for the functional continuity of seven glycosyltransferases and three sugar nucleotide transporters. Glycoconjugate Journal, 18 ( 8 ), 623 â 633.; Kelley, L. A., Mezulis, S., Yates, C. M., Wass, M. N., & Sternberg, M. J. ( 2015 ). The Phyre2 web portal for protein modeling, prediction and analysis. Nature Protocols, 10 ( 6 ), 845 â 858. https://doi.org/10.1038/nprot.2015.053; Ishida, N., Yoshioka, S., Iida, M., Sudo, K., Miura, N., Aoki, K., & Kawakita, M. ( 1999 ). Indispensability of transmembrane domains of Golgi UDPâ galactose transporter as revealed by analysis of genetic defects in UDPâ galactose transporterâ deficient murine hadâ 1 mutant cell lines and construction of deletion mutants. Journal of Biochemistry, 126 ( 6 ), 1107 â 1117.; Ishida, N., Miura, N., Yoshioka, S., & Kawakita, M. ( 1996 ). Molecular cloning and characterization of a novel isoform of the human UDPâ galactose transporter, and of related complementary DNAs belonging to the nucleotideâ sugar transporter gene family. Journal of Biochemistry, 120 ( 6 ), 1074 â 1078.; Ichikawa, M., Scott, D. A., Losfeld, M. E., & Freeze, H. H. ( 2014 ). The metabolic origins of mannose in glycoproteins. Journal of Biological Chemistry, 289 ( 10 ), 6751 â 6761. https://doi.org/10.1074/jbc.M113.544064; Hayes, B. K., Freeze, H. H., & Varki, A. ( 1993 ). Biosynthesis of oligosaccharides in intact Golgi preparations from rat liver. Analysis of Nâ linked glycans labeled by UDPâ [6â 3H]Nâ acetylglucosamine. Journal of Biological Chemistry, 268 ( 22 ), 16139 â 16154.; Hara, T., Yamauchi, M., Takahashi, E., Hoshino, M., Aoki, K., Ayusawa, D., & Kawakita, M. ( 1993 ). The UDPâ galactose translocator gene is mapped to band Xp11.23â p11.22 containing the Wiskottâ Aldrich syndrome locus. Somatic Cell and Molecular Genetics, 19 ( 6 ), 571 â 575.; Guillen, E., Abeijon, C., & Hirschberg, C. B. ( 1998 ). Mammalian Golgi apparatus UDPâ Nâ acetylglucosamine transporter: Molecular cloning by phenotypic correction of a yeast mutant. Proceedings of the National Academy of Sciences of the United States of America, 95 ( 14 ), 7888 â 7892.; Grunewald, S. ( 2009 ). The clinical spectrum of phosphomannomutase 2 deficiency (CDGâ Ia). Biochimica et Biophysica Acta/General Subjects, 1792 ( 9 ), 827 â 834. https://doi.org/10.1016/j.bbadis.2009.01.003; Galupa, R., & Heard, E. ( 2018 ). Xâ chromosome inactivation: A crossroads between chromosome architecture and gene regulation. Annual Review of Genetics, 52, 535 â 566. https://doi.org/10.1146/annurevâ genetâ 120116â 024611; Freeze, H. H., Eklund, E. A., Ng, B. G., & Patterson, M. C. ( 2015 ). Neurological aspects of human glycosylation disorders. Annual Review of Neuroscience, 38, 105 â 125. https://doi.org/10.1146/annurevâ neuroâ 071714â 034019; Freeze, H. H., Eklund, E. A., Ng, B. G., & Patterson, M. C. ( 2012 ). Neurology of inherited glycosylation disorders. Lancet Neurology, 11 ( 5 ), 453 â 466. https://doi.org/10.1016/S1474â 4422(12)70040â 6; Freeze, H. H. ( 2006 ). Genetic defects in the human glycome. Nature Reviews Genetics, 7 ( 7 ), 537 â 551. https://doi.org/10.1038/nrg1894; Ferreira, C. R., Altassan, R., Marquesâ Daâ Silva, D., Francisco, R., Jaeken, J., & Morava, E. ( 2018 ). Recognizable phenotypes in CDG. Journal of Inherited Metabolic Disease, 41 ( 3 ), 541 â 553. https://doi.org/10.1007/s10545â 018â 0156â 5

الاتاحة: https://hdl.handle.net/2027.42/150498
https://doi.org/10.1002/humu.23731

المؤلفون: Lin, Ti, Orrison, Bonnie M., Leahey, Ann-Marie, Suchy, Sharon F., Bernard, David J., Lewis, Richard A., Nussbaum, Robert L.

المصدر: The American Journal of Human Genetics ; volume 60, issue 6, page 1384-1388 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/515471
https://api.elsevier.com/content/article/PII:S000292970764230X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292970764230X?httpAccept=text/plain

المؤلفون: Suchy, Sharon F., Olivos-Glander, Isabelle M., Nussbaum, Robert L.

مصطلحات موضوعية: REPORTS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/4/12/2245; http://dx.doi.org/10.1093/hmg/4.12.2245

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/4/12/2245
https://doi.org/10.1093/hmg/4.12.2245

المؤلفون: Friedman, Bethany, Simpson, Kara, Tesi-Rocha, Carolina, Zhou, Delu, Palmer, Cheryl A., Suchy, Sharon F.

المصدر: Pediatrics Faculty Publications

مصطلحات موضوعية: Actins--genetics, Myopathies, Nemaline--genetics, Sequence Deletion, Pediatrics

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/829; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=24447884

الاتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/829
http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=24447884

المؤلفون: Bai, Renkui, Haverfield, Eden, Higgs, Jaimie, Suchy, Sharon F., Arjona, Dolores, Retterer, Kyle, Smaoui, Nizar, Richard, Gabriele, Bale, Sherri, Kendall, Fran D., Parikh, Sumit, Gropman, Andrea L., Haas, Richard, Goldstein, Amy, Panzer, Jessica A., Yum, Sabrina W., Falk, Marni J., Saneto, R.P., Enns, Gregory M., Chung, Wendy K.

المصدر: Mitochondrion ; volume 13, issue 6, page 934 ; ISSN 1567-7249

الاتاحة: http://dx.doi.org/10.1016/j.mito.2013.07.092
https://api.elsevier.com/content/article/PII:S1567724913001918?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1567724913001918?httpAccept=text/xml

المؤلفون: Wenk, Markus R, Lucast, Louise, Di Paolo, Gilbert, Romanelli, Anthony J, Suchy, Sharon F, Nussbaum, Robert L, Cline, Gary W, Shulman, Gerald I, McMurray, Walter, De Camilli, Pietro

المصدر: Nature Biotechnology ; volume 21, issue 7, page 813-817 ; ISSN 1087-0156 1546-1696

الاتاحة: http://dx.doi.org/10.1038/nbt837
http://www.nature.com/articles/nbt837.pdf
http://www.nature.com/articles/nbt837

المؤلفون: Suchy, Sharon F., Lin, Ti, Horwitz, Juli A., O'Brien, William E., Nussbaum, Robert L.

المصدر: Prenatal Diagnosis ; volume 18, issue 11, page 1117-1121 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/(sici)1097-0223(199811)18:11%3C1117::aid-pd413%3E3.0.co%3B2-q
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1097-0223(199811)18:11%3C1117::AID-PD413%3E3.0.CO%3B2-Q
https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1097-0223(199811)18:11%3C1117::AID-PD413%3E3.0.CO%3B2-Q