المؤلفون: Wang Zhenting, Yin Xianlai, Yang Peng, Gong Binghao, Liu Haifang

المصدر: Acta Biochimica et Biophysica Sinica, Vol 56, Pp 675-687 (2024)

مصطلحات موضوعية: benign prostate hyperplasia (BPH), epithelial-to-mesenchymal transition (EMT), Wnt/β-catenin pathway, miR-1202, 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL), Biochemistry, QD415-436, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1672-9145

URL الوصول: https://doaj.org/article/b08b45a2f889461a9eb8e02ece37bc72

المؤلفون: Gouirand, Victoire, Gicquel, Tristan, Lien, Evan C, Jaune‐Pons, Emilie, Da Costa, Quentin, Finetti, Pascal, Metay, Elodie, Duluc, Camille, Mayers, Jared R, Audebert, Stephane, Camoin, Luc, Borge, Laurence, Rubis, Marion, Leca, Julie, Nigri, Jeremy, Bertucci, François, Dusetti, Nelson, Iovanna, Juan Lucio, Tomasini, Richard, Bidaut, Ghislain, Guillaumond, Fabienne, Heiden, Matthew G Vander, Vasseur, Sophie

المصدر: The EMBO Journal. 41(9)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Biological Sciences, Rare Diseases, Cancer, Nutrition, Digestive Diseases, Pancreatic Cancer, Aetiology, 2.1 Biological and endogenous factors, 3-Hydroxybutyric Acid, Animals, Ketone Bodies, Mice, Oxo-Acid-Lyases, Pancreas, Pancreatic Neoplasms, HMGCL, ketone bodies, metastasis, pancreatic cancer, β-hydroxybutyrate, Information and Computing Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7vc1t8sb

المؤلفون: Nassim Boutouchent, Julie Bourilhon, Bénédicte Sudrié-Arnaud, Antoine Bonnevalle, Lucie Guyant-Maréchal, Cécile Acquaviva, Loréna Dujardin-Ippolito, Soumeya Bekri, Ivana Dabaj, Abdellah Tebani

المصدر: Diagnostics; Volume 11; Issue 9; Pages: 1561

مصطلحات موضوعية: HMGLD, HMGCL, HMG-CoA lyase deficiency, NGS, inherited metabolic diseases

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11091561

الاتاحة: https://doi.org/10.3390/diagnostics11091561

المؤلفون: María Arnedo, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Rebeca Antoñanzas-Peréz, Paulino Gómez-Puertas, Gloria Bueno-Lozano, Beatriz Puisac, Juan Pié

المصدر: International Journal of Molecular Sciences; Volume 20; Issue 24; Pages: 6124

مصطلحات موضوعية: HMG-CoA lyase, HMGCL, HMGCLL1, ketone bodies, 3-hydroxy-3-methylglutaric aciduria

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Endocrinology and Metabolism; https://dx.doi.org/10.3390/ijms20246124

الاتاحة: https://doi.org/10.3390/ijms20246124

المؤلفون: Victoire Gouirand, Tristan Gicquel, Evan C Lien, Emilie Jaune‐Pons, Quentin Da Costa, Pascal Finetti, Elodie Metay, Camille Duluc, Jared R Mayers, Stephane Audebert, Luc Camoin, Laurence Borge, Marion Rubis, Julie Leca, Jeremy Nigri, François Bertucci, Nelson Dusetti, Juan Lucio Iovanna, Richard Tomasini, Ghislain Bidaut, Fabienne Guillaumond, Matthew G Vander Heiden, Sophie Vasseur

المساهمون: Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Cancérologie de Marseille (CRCM / U891 Inserm), Institut Paoli-Calmettes, Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Koch Institute for Integrative Cancer Research at MIT [Cambridge, MA], Massachusetts Institute of Technology (MIT)

المصدر: EMBO Journal
EMBO Journal, 2022, ⟨10.15252/embj.2021110466⟩
The EMBO journal, vol 41, iss 9
EMBO J

مصطلحات موضوعية: pancreatic cancer, [SDV.CAN]Life Sciences [q-bio]/Cancer, Ketone Bodies, Medical and Health Sciences, General Biochemistry, Genetics and Molecular Biology, Mice, β-hydroxybutyrate, Rare Diseases, Information and Computing Sciences, Animals, metastasis, 2.1 Biological and endogenous factors, Aetiology, Molecular Biology, Pancreas, ComputingMilieux_MISCELLANEOUS, Cancer, Nutrition, General Immunology and Microbiology, 3-Hydroxybutyric Acid, General Neuroscience, Oxo-Acid-Lyases, Articles, HMGCL, Biological Sciences, Pancreatic Neoplasms, Digestive Diseases, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::402d390310382a7d2b9d332eef585cf9
https://hal-amu.archives-ouvertes.fr/hal-03623502

المؤلفون: Wing-Kee Lee, Michelle Maaß, Amy Quach, Nataliya Poscic, Holly Prangley, Erin-Claire Pallott, Jiyoon L. Kim, Jason S. Pierce, Besim Ogretmen, Anthony H. Futerman, Frank Thévenod

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: TG, thapsigargin, Male, cancer drug resistance, FASN, fatty acid synthase, Biochemistry, ERAD, ER-associated degradation, UPR, unfolded protein response, MDR, multidrug resistance, Tandem Mass Spectrometry, Sphingosine N-Acyltransferase, Tumor Microenvironment, HERPUD1, homocysteine-inducible ER protein with ubiquitin-like domain 1, GRP78, glucose-regulated protein 78 kDa, unfolded protein response, Endoplasmic Reticulum-Associated Degradation, Kidney Neoplasms, XBP1, X-box binding protein 1, lipids (amino acids, peptides, and proteins), Female, ABC transporter, ATP6α, activating transcription factor 6α, Research Article, ATP Binding Cassette Transporter, Subfamily B, PDIA4, protein disulfide isomerase family A member 4, P-glycoprotein, CHOP, C/EBP homologous protein, Ceramides, ACACA, acetyl-CoA carboxylase alpha, ER, endoplasmic reticulum, VLC, very long chain, LCC, long-chain ceramide, HPCT, human proximal convoluted tubule, Humans, RNA, Messenger, TUN, tunicamycin, Molecular Biology, Sphingolipids, SM, sphingomyelin, UCSC, University of California, Santa Cruz, SREBP, sterol-regulatory element binding protein, LD, lipid domain, Tumor Suppressor Proteins, Membrane Proteins, Cell Biology, DOX, doxorubicin, Doxorubicin, Drug Resistance, Neoplasm, Mff, mitochondrial fission factor, CerS, ceramide synthase, HMGCL, 3-hydroxymethyl-3-methylglutaryl-CoA lyase, TM, transmembrane

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1819640a96f5d4d5386b5634e205d7
http://europepmc.org/articles/PMC8804196

المؤلفون: Bénédicte Sudrié-Arnaud, Abdellah Tebani, Nassim Boutouchent, Soumeya Bekri, Lucie Guyant-Maréchal, Julie Bourilhon, Ivana Dabaj, Loréna Dujardin-Ippolito, Antoine Bonnevalle, Cécile Acquaviva

المصدر: Diagnostics
Diagnostics, Vol 11, Iss 1561, p 1561 (2021)

مصطلحات موضوعية: Coma, Medicine (General), business.industry, Clinical Biochemistry, Genetic disorder, Physiology, Late onset, Metabolic acidosis, Case Report, HMGCL, HMG-CoA lyase deficiency, medicine.disease, Compound heterozygosity, 3-hydroxy-3-methylglutaryl-CoA lyase, inherited metabolic diseases, R5-920, NGS, Medicine, HMGLD, medicine.symptom, Ketosis, business, HMG-CoA Lyase Deficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e00d971ff39de7c2f45d85184351940
http://europepmc.org/articles/PMC8469356

المؤلفون: Grünert, Sarah C., Sass, Jörn Oliver

المصدر: Orphanet Journal of Rare Diseases
Orphanet J Rare Dis 15, 48 (2020)
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Ketone body, ddc:616, Metabolic decompensation, Ketogenesis, Metabolic acidosis, Research, lcsh:R, lcsh:Medicine, HMGCL, Inborn error of metabolism, Hypoglycemia, Leucine, ddc:570, Organic aciduria, Hyperammonemia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd34fe279996ed314a8731b13ee917ec
https://doi.org/10.21203/rs.2.17759/v2

المؤلفون: Puisac, Beatriz, Teresa-Rodrigo, María-Esperanza, Arnedo, María, Gil-Rodríguez, María Concepción, Pérez-Cerdá, Celia, Ribes, Antonia, Pié, Ángeles, Bueno, Gloria, Gómez-Puertas, Paulino, Pié, Juan

مصطلحات موضوعية: HMGCL, NAS, NMD, HMG-CoA lyase deficiency, Alternative splicing

Relation: Molecular Genetics and Metabolism 106: 232 (2013); http://hdl.handle.net/10261/116854

الاتاحة: http://hdl.handle.net/10261/116854
https://doi.org/10.1016/j.ymgme.2013.01.019

المؤلفون: Puisac, Beatriz, Wesseling, J., Gómez-Puertas, Paulino, Pié, Juan

المساهمون: Gobierno de Aragón, Universidad de Zaragoza, Ministerio de Educación y Ciencia (España), Instituto de Salud Carlos III, European Commission, Fundación Ramón Areces

مصطلحات موضوعية: HMGCL, Alternative splicing, Ketone bodies, HMGCS2

Relation: Molecular Biology Reports 39: 4777- 4785 (2012); http://hdl.handle.net/10261/112173; http://dx.doi.org/10.13039/501100007041; http://dx.doi.org/10.13039/501100004587; http://dx.doi.org/10.13039/501100000780; http://dx.doi.org/10.13039/100008054; http://dx.doi.org/10.13039/501100010067

الاتاحة: http://hdl.handle.net/10261/112173
https://doi.org/10.1007/s11033-011-1270-8
https://doi.org/10.13039/501100007041
https://doi.org/10.13039/501100004587
https://doi.org/10.13039/501100000780
https://doi.org/10.13039/100008054
https://doi.org/10.13039/501100010067

المؤلفون: Celia Pérez-Cerdá, María Esperanza Teresa-Rodrigo, Antonia Ribes, María Concepción Gil-Rodríguez, Gloria Bueno, Angeles Pié, Beatriz Puisac, María Teresa Echeverría Arnedo, Juan Pié, Paulino Gómez-Puertas

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, RNA Splicing, Nonsense-mediated decay, Exonic splicing enhancer, Mutation, Missense, Biology, Biochemistry, Endocrinology, Genetics, Missense mutation, Humans, NMD, Acetyl-CoA C-Acetyltransferase, Molecular Biology, Exonic splicing silencer, Amino Acid Metabolism, Inborn Errors, Base Sequence, Alternative splicing, Sequence Analysis, DNA, HMGCL, HMG-CoA lyase deficiency, Molecular biology, Stop codon, Nonsense Mediated mRNA Decay, NAS, Codon, Nonsense, Child, Preschool, RNA splicing, Codon, Terminator, Female, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab3e0a25b175e0be95c775f8aea2accf
http://hdl.handle.net/10261/116854

المؤلفون: María Teresa Echeverría Arnedo, Mónica Ramos, Paulino Gómez-Puertas, Jan-Jaap Wesselink, Sebastián Menao, Beatriz Puisac, Juan Pié, Ignacio Gimenez, Fausto G. Hegardt, Angeles Pié, Juan C. de Karam, María Concepción Gil-Rodríguez, Feliciano J. Ramos, Núria Casals, María Esperanza Teresa-Rodrigo

المساهمون: Gobierno de Aragón, Universidad de Zaragoza, Ministerio de Educación y Ciencia (España), Instituto de Salud Carlos III, European Commission, Fundación Ramón Areces

المصدر: Molecular Biology Reports; Vol 39
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Hydroxymethylglutaryl-CoA Synthase, Blotting, Western, Ketone Bodies, Biology, Mitochondrion, Real-Time Polymerase Chain Reaction, Isozyme, Protein Structure, Secondary, 03 medical and health sciences, Exon, 0302 clinical medicine, Ketogenesis, Genetics, Humans, splice, Molecular Biology, Gene, 030304 developmental biology, 0303 health sciences, Alternative splicing, Computational Biology, Oxo-Acid-Lyases, HMGCL, General Medicine, Lyase, Molecular biology, Biosynthetic Pathways, Mitochondria, Isoenzymes, Alternative Splicing, HEK293 Cells, Biochemistry, Ketone bodies, HMGCS2, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5975abd37cbfb347de72d73a6efdb87
https://pubmed.ncbi.nlm.nih.gov/21952825

المؤلفون: Osama Alsmadi, Moeenaldeen Al-Sayed, Mohammed S Rashed, Brian F. Meyer, Faiqa Imtiaz

المصدر: BMC Medical Genetics, Vol 7, Iss 1, p 86 (2006)
BMC Medical Genetics

مصطلحات موضوعية: lcsh:Internal medicine, lcsh:QH426-470, Molecular Sequence Data, education, Population, Mutation, Missense, Saudi Arabia, Biology, Polymerase Chain Reaction, Organic aciduria, Frameshift mutation, Genetics, Humans, Genetics(clinical), Base sequence, Frameshift Mutation, lcsh:RC31-1245, Genetics (clinical), chemistry.chemical_classification, education.field_of_study, Base Sequence, Homozygote, Oxo-Acid-Lyases, nutritional and metabolic diseases, Lyase, Molecular biology, 3-hydroxy-3-methylglutaryl-CoA lyase, lcsh:Genetics, Enzyme, chemistry, HMGCL gene, Metabolism, Inborn Errors, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd957d63b4e2f24cf4c3e02c1de8d409
https://doi.org/10.1186/1471-2350-7-86

المؤلفون: Agencia Estatal de Investigación (España), Diputación General de Aragón, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Arnedo, María, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Gil-Salvador, Marta, Antoñanzas-Peréz, Rebeca, Gómez-Puertas, Paulino, Bueno-Lozano, Gloria, Puisac, Beatriz, Pié, Juan

مصطلحات الفهرس: HMG-CoA lyase, HMGCL, HMGCLL1, ketone bodies, 3-hydroxy-3-methylglutaric aciduria, artículo

URL: http://hdl.handle.net/10261/197185
https://doi.org/10.3390/ijms20246124
Publisher's version
https://doi.org/10.3390/ijms20246124
Sí
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/RTC-2017-6494-1
RTC-2017-6494-1/AEI/10.13039/501100011033
RTI2018-094434-B-I00/AEI/10.13039/501100011033
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/RTI2018-094434-B-I00

المؤلفون: Gobierno de Aragón, Universidad de Zaragoza, Ministerio de Educación y Ciencia (España), Instituto de Salud Carlos III, European Commission, Fundación Ramón Areces, Puisac, Beatriz, Wesseling, J., Gómez-Puertas, Paulino, Pié, Juan

مصطلحات الفهرس: HMGCL, Alternative splicing, Ketone bodies, HMGCS2, artículo

URL: http://hdl.handle.net/10261/112173