المؤلفون: A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Voskoboeva, R. G. Kuramagomedova, S. V. Bochenkov, А. Н. Семячкина, Е. А. Николаева, Е. Ю. Воскобоева, Р. Г. Курамагомедова, С. В. Боченков

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 3 (2024); 118-124 ; Российский вестник перинатологии и педиатрии; Том 69, № 3 (2024); 118-124 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: диагностика, lysosomal diseases, mucolipidosis type IV, MCOLN1 gene, mutation c.304C>T (p.Arg102Term), clinical symptoms, diagnosis, лизосомные болезни, муколипидоз IV типа, ген MCOLN1, мутация c.304C>T (p.Arg102Term), клиническая симптоматика

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/2013/1503; Slaugenhaupt S.A., Acierno J.S., Helbling L.A., Bove C., Goldin E., Bach G. et al. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet 1999; 65(3): 773-778. DOI:10.1086/302549; Bargal R., Avidan N., Olender T., Ben Asher E., Zeigler M., Raas-Rothschild A. et al. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Hum Mutat 2001; 17(5): 397-402. DOI:10.1002/humu.1115; Bach G. Mucolipidosis type IV. Mol Genet Metab 2001; 73: 197-203.; Jezela-Stanek A., Ciara E., Stepien K.M. Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV — A Review and Case Series. Int J Mol Sci 2020; 21(12): 4564. DOI:10.3390/ijms21124564; Wakabayashi K., Gustafson A.M., Sidransky E., Goldin E. Mucolipidosis type IV: an update. Mol Genet Metab 2011; 104(3): 206-213. DOI:10.1016/j.ymgme.2011.06.006; Boudewyn L.C., Walkley S.U. Current concepts in the neuropathogenesis of mucolipidosis type IV. J Neurochem 2019; 148(5): 669-689. DOI:10.1111/jnc.14462; Edelmann L., Dong J., Desnick R.J., Kornreich R. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet 2002; 70(4): 1023- 1027. DOI:10.1086/339519; Al-Alawi B., Harikrishna B., Al-Thihli K., Al Zuhab S., Ganesh A., Al Hashami Z. et al. Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect. Genes (Basel) 2022; 13(2): 248. DOI:10.3390/genes13020248; Berman E.R., Livni N., Shapira E., Merin S., Levij I.S. Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis. J Pediatr 1974; 84: 519- 526. DOI:10.1016/S0022-3476(74)80671-2; Misko A., Wood L., Kiselyov K., Slaugenhaupt S., Grishchuk Y. Progress in elucidating pathophysiology of mucolipidosis IV. Neurosci Lett 2021; 755: 135944. DOI:10.1016/j. neulet.2021.135944; Schiffmann R., Mayfield J., Swift C., Nestrasil I. Quantitative neuroimaging in mucolipidosis type IV. Mol Genet Metab 2014; 111(2): 147-151. DOI:10.1016/j.ymgme.2013.11.007/; Misko A., Grishchuk Y., Goldin E., Schiffmann R. Mucolipidosis IV. In: Adam M.P., Feldman J., Mirzaa G.M, Pagon R.A., Wallace S.E., Bean L.J.H., Gripp K.W., Amemiya A. (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2021. https://www.ncbi.nlm.nih.gov/books/ NBK1214/; Chandra M., Zhou H., Li Q., Muallem S., Hofmann S.L., Soyombo A.A. A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice. Gastroenterology 2011; 140(3): 857-867. DOI:10.1053/j.gastro.2010.11.040; Семячкина А.Н., Воскобоева Е.Ю., Букина Т.М., Букина А.М., Николаева Е.А., Данцев И.С. и др. Клиникогенетическая характеристика муколипидоза II и IIIA типов у детей. Рос вестн перинатол и педиатр 2017; 62(3): 71-78. DOI:10.21508/1027-4065-2017-62-3-71-78; Sun M., Goldin E., Stahl S., Falardeau J.L., Kennedy J.C., Acierno J.S. et al. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet 2000; 9: 2471-2478. DOI:10.1093/hmg/9.17.2471; https://www.ped-perinatology.ru/jour/article/view/2013

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/2013
https://doi.org/10.21508/1027-4065-2024-69-3-118-124

المؤلفون: CHEN Yixin, CHENG Lizhen, LIN Yijia, MIAO Ya

المصدر: Shanghai Jiaotong Daxue xuebao. Yixue ban, Vol 43, Iss 2, Pp 162-170 (2023)

مصطلحات موضوعية: diabetic encephalopathy, autophagy, transcription factor eb (tfeb), mucolipin trp cation channel 1 (mcoln1), mammalian target of rapamycin (mtor), Medicine

وصف الملف: electronic resource

Relation: https://xuebao.shsmu.edu.cn/article/2023/1674-8115/1674-8115-2023-43-2-162.shtml; https://doaj.org/toc/1674-8115

URL الوصول: https://doaj.org/article/523f575f4d03404183a34a5560acbedf

المؤلفون: Badriya Al-Alawi, Beena Harikrishna, Khalid Al-Thihli, Sana Al Zuhabi, Anuradha Ganesh, Zainab Al Hashami, Zeyana Al Dhamhmani, Razan Zadjali, Nafila B. Al Riyami, Fahad Zadjali

المصدر: Genes; Volume 13; Issue 2; Pages: 248

مصطلحات موضوعية: MCOLN1, Oman, mucolipidosis, retinal dystrophy, corneal clouding, mendelian inheritance

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13020248

الاتاحة: https://doi.org/10.3390/genes13020248

المؤلفون: Yin C, Zhang H, Liu X, Zhang Y, Bai X, Wang L, Li H, Li X, Zhang S, Zhang L

المصدر: Cancer Management and Research, Vol Volume 11, Pp 8607-8617 (2019)

مصطلحات موضوعية: MCOLN1, NSCLC, Autophagy, Lysosome, progression, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.dovepress.com/downregulated-mcoln1-attenuates-the-progression-of-non-small-cell-lung-peer-reviewed-article-CMAR; https://doaj.org/toc/1179-1322

URL الوصول: https://doaj.org/article/787e4b8831534a4d920f01f38bfccd57

المؤلفون: Yanhong Xing (1970827), Xiangqing Wei (10691345), Yucheng Liu (1435525), Meng-Meng Wang (755198), Zhongheng Sui (10691348), Xinyan Wang (170927), Wucheng Zhu (11813542), Mengmei Wu (10691354), Chen Lu (135200), Yuan-Hui Fei (10691351), Yi Jiang (40197), Yang Zhang (30734), Yuqing Wang (110531), Feng Guo (180529), Jun-Li Cao (312500), Jiansong Qi (10691342), Wuyang Wang (5803307)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Molecular Biology, Physiology, Pharmacology, Immunology, Developmental Biology, Marine Biology, Cancer, Infectious Diseases, Biological Sciences not elsewhere classified, Autophagic arrest, metastasis, mitochondria turnover, TP53, ROS, MCOLN1

Relation: https://figshare.com/articles/journal_contribution/Autophagy_inhibition_mediated_by_MCOLN1_TRPML1_suppresses_cancer_metastasis_via_regulating_a_ROS-driven_TP53_p53_pathway/17147782

الاتاحة: https://doi.org/10.6084/m9.figshare.17147782.v1

المؤلفون: Jiansong Qi (10691342), Yanhong Xing (1970827), Yucheng Liu (1435525), Meng-Meng Wang (755198), Xiangqing Wei (10691345), Zhongheng Sui (10691348), Lin Ding (211686), Yang Zhang (30734), Chen Lu (135200), Yuan-Hui Fei (10691351), Nan Liu (1630), Rong Chen (29176), Mengmei Wu (10691354), Lijuan Wang (143209), Zhenyu Zhong (6861935), Ting Wang (16292), Yifan Liu (219681), Yuqing Wang (110531), Jiamei Liu (513291), Haoxing Xu (70454), Feng Guo (180529), Wuyang Wang (5803307)

مصطلحات موضوعية: Biochemistry, Microbiology, Cell Biology, Neuroscience, Physiology, Immunology, Cancer, Plant Biology, Autophagic arrest, autophagosome-lysosome fusion, MCOLN1, zinc influx

Relation: https://figshare.com/articles/journal_contribution/MCOLN1_TRPML1_finely_controls_oncogenic_autophagy_in_cancer_by_mediating_zinc_influx/14473322

الاتاحة: https://doi.org/10.6084/m9.figshare.14473322.v1

المؤلفون: Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M. Stepien

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 12; Pages: 4564

مصطلحات موضوعية: mucolipidosis type IV, MCOLN1, corneal clouding, gastrin, myopathy, neurodegenerative

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21124564

الاتاحة: https://doi.org/10.3390/ijms21124564

المؤلفون: Owais M. Bhat, Xinxu Yuan, Sarah Camus, Fadi N. Salloum, Pin-Lan Li

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 5; Pages: 1713

مصطلحات موضوعية: arterial medial calcification, Mcoln1 −/−, multivesicular body, smooth muscle cells, small extracellular vesicle

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21051713

الاتاحة: https://doi.org/10.3390/ijms21051713

المؤلفون: Niani Tiaye Bailey, Bilon Khambu, Gang Liu, Sophia Blessinger, Katherine Byrnes, Russell Scaife

المصدر: Acta Pharmaceutica Sinica. B
Acta Pharmaceutica Sinica B, Vol 12, Iss 1, Pp 33-49 (2022)

مصطلحات موضوعية: MCOLN1, mucolipin 1, Review, OPTN, optineurin, UPR, unfolded protein response, LIMP1, lysosomal integral membrane protein-1, General Pharmacology, Toxicology and Pharmaceutics, BNIP3L, BCL2 interacting protein 3 like, STBD1, starch-binding domain-containing protein 1, PLIN3, perilipin 3, LIR, LC3 interacting region, PPARα, peroxisomal proliferator-activated receptor-alpha, mTORC1, mammalian target of rapamycin complex 1, Translation (biology), WIPI1, WD repeat domain phosphoinositide-interacting protein 1, TBK1, serine/threonine-protein kinase, Cell biology, GIM, GABARAP-interacting motif, CREB, cAMP response element binding protein, PP2A, protein phosphatase 2a, Liver metabolism, CLN3, lysosomal/endosomal transmembrane protein, LALP70, lysosomal apyrase-like protein of 70 kDa, LD, lipid droplet, RETREG1, reticulophagy regulator 1, PINK1, phosphatase and tensin homolog (PTEN)-induced kinase 1, RM1-950, ATL3, Atlastin GTPase 3, RTNL3, a long isoform of RTN3, LAMP2, lysosomal-associated membrane protein-2, FXR, farnesoid X receptor, Farnesoid X receptor, Cryptochrome 1, FFA, free fatty acid, TFEB/TFE3, transcription factor EB, ULK1, Unc-51 like autophagy activating kinase 1, TRAC-1, thyroid-hormone-and retinoic acid-receptor associated co-repressor 1, RTN3, reticulon 3, S6K, P70-S6 kinase, SEC62, SEC62 homolog, preprotein translocation factor, GABARAPL1, GABA type A receptor associated protein like 1, TEX264, testis expressed 264, ER-phagy receptor, DFCP1, double FYVE-containing protein 1, LXRa, liver X receptor a, SLC36A1, solute carrier family 36 member 1, V-ATPase, vacuolar-ATPase, Regeneration (biology), Quality control, AIM, Atf8 interacting motif, VLDL, very-low-density lipoprotein, CYP7A1, cholesterol 7α-hydroxylase, NBR1, BRCA1 gene 1 protein, BCL2L13, BCL2 like 13, TGR5, takeda G protein receptor 5, NCoR1, nuclear receptor co-repressor 1, PKA, protein kinase A, Function (biology), CRY1, cryptochrome 1, LAMP1, lysosomal-associated membrane protein-1, Anabolism, S6RP, S6 ribosomal protein, LIMP3, lysosomal integral membrane protein-3, FAM134B, family with sequence similarity 134, member B, Nutrient regeneration, SPIN, spindling, FOXO1, Forkhead box O1, SCARB2, scavenger receptor class B member 2, PQLC2, PQ-loop protein, SQSTM1, sequestosome 1, CMA, chaperonin mediated autophagy, PLIN2, perilipin 2, PXR, pregnane X receptor, NPC-1, Niemann-Pick disease, type C1, SLC38A9, sodium-coupled neutral amino acid transporter 9, Lysosome, TRPML1, transient receptor potential mucolipin 1, BNIP3, BCL2 interacting protein 3, BA, bile acid, ATM, ATM serine/threonine kinase, CAR, constitutive androstane receptor, MFSD1, major facilitator superfamily domain containing 1, NAFLD, non-alcoholic fatty liver disease, PKB, protein kinase B, VDR, vitamin D3 receptor, SIRT1, sirtuin 1, LYAAT-1, lysosomal amino acid transporter 1, SNAT7, sodium-coupled neutral amino acid transporter 7, Biology, S1PR2, sphingosine-1-phosphate receptor 2, ROS, reactive oxygen species, CYP27A1, sterol 27-hydroxylase, Autophagy, NDP52, calcium-binding and coiled-coil domain-containing protein 2, ATGL, adipose triglyceride lipase, Signaling proteins, Catabolism, FUNDC1, FUN14 domain containing 1, CCPG1, cell cycle progression 1, LAAT-1, lysosomal amino acid transporter 1 homologue, PEX5, peroxisomal biogenesis factor 5, PI3K, phosphatidylinositol-4,5-bisphosphate 3-kinase, SLC38A7, solute carrier family 38 member 7, Therapeutics. Pharmacology, Homeostasis, Drug metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e58c0ac6db641c550d04c5a5c6ba5a1a
https://doi.org/10.1016/j.apsb.2021.07.021

المؤلفون: Yongping Chen, Qianqian Wei, Yanbing Hou, Ying Wu, Bei Cao, Wei Song, Lingyu Zhang, Bi Zhao, Huifang Shang, Wei-Ming Su, Ruwei Ou, Kuncheng Liu, Xiaojing Gu

المصدر: Journal of Parkinson's Disease. 11:1845-1855

مصطلحات موضوعية: 0301 basic medicine, Genetics, China, Parkinson's disease, Parkinson Disease, SCARB2, Disease, Biology, medicine.disease, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Cohort, medicine, Humans, Neurology (clinical), Allele, Lysosomes, Gene, Genetic Association Studies, 030217 neurology & neurosurgery, MCOLN1, Early onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::948dfae1489d3aa77f37618c2714a397
https://doi.org/10.3233/jpd-212658

المؤلفون: Debora Kidron, Raphael Schiffmann, Yulia Grishchuk, Dorit Lev, Z. Leibovitz, Yael Fisher, Ayelet Zerem, Naama Orenstein, Nitzan Vigdorovich, Liat Ben-Sira, Albert L. Misko, Tally Lerman-Sagie

المصدر: Metabolic Brain Disease. 36:2155-2167

مصطلحات موضوعية: 0301 basic medicine, Fetus, medicine.medical_specialty, Pathology, Neurology, business.industry, Autopsy, Neuropathology, Human brain, medicine.disease, Biochemistry, White matter, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, medicine, Neurology (clinical), Mucolipidosis type IV, business, 030217 neurology & neurosurgery, MCOLN1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::60ddf7b2d94ffef859b88daf642234db
https://doi.org/10.1007/s11011-021-00742-3

المؤلفون: Stephanie Grunewald, Anna Sarkozy, Alberto A. Zambon, Alexandra Lemaigre, Emma Clement, Francesco Muntoni, Rahul Phadke, Caroline Sewry

المصدر: Neuromuscular Disorders. 31:212-217

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, 03 medical and health sciences, 0302 clinical medicine, Lysosome, medicine, Muscular dystrophy, Myopathy, Genetics (clinical), MCOLN1, Sarcolemma, Muscle biopsy, biology, medicine.diagnostic_test, business.industry, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Creatine kinase, Neurology (clinical), Mucolipidosis type IV, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e83b2f4da786a904cae9fcf092dc8ae
https://doi.org/10.1016/j.nmd.2020.12.009

المؤلفون: Hirotomo Saitsu, Toshiaki Tachibana, Mineo Kondo, Kei Mizobuchi, Akiko Kubo, Yoshihiro Hotta, Minehiro Kurai, Norihito Mamiya, Tadashi Nakano, Kentaro Kurata, Satoshi Katagiri, Takaaki Hayashi, Tsutomu Ogata, Katsuhiro Hosono

المصدر: American Journal of Medical Genetics Part A. 182:1500-1505

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Cerebellum, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Retinal, 030105 genetics & heredity, Biology, medicine.disease, 03 medical and health sciences, Transmembrane domain, chemistry.chemical_compound, 030104 developmental biology, medicine.anatomical_structure, Atrophy, chemistry, Genetics, medicine, Mucolipidosis type IV, Genetics (clinical), MCOLN1, Electroretinography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ea790e389b81b2207c7fb9269cf6f6c5
https://doi.org/10.1002/ajmg.a.61575

المؤلفون: Tadashi Kaname, Shinji Saitoh, Naoya Yamaguchi, Kohji Kato, Ayako Hattori, Kyoko Ban, Yuji Nakamura, Atsushi Suzuki, Yusuke Okuno, Yoshiyuki Takahashi, Hideki Muramatsu

المصدر: Brain and Development. 42:298-301

مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Mucolipidosis, business.industry, General Medicine, Corpus callosum, Compound heterozygosity, medicine.disease, White matter, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Mucolipidosis type IV, business, 030217 neurology & neurosurgery, Exome sequencing, MCOLN1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5b3d8c40ec92688087785b202b0b12f3
https://doi.org/10.1016/j.braindev.2019.12.003

المؤلفون: Patel, S

المصدر: Messenger , 5 (1-2) pp. 24-29. (2016)

مصطلحات موضوعية: ACIDIC CA2+ STORES, CA2+, LYSOSOMES, MCOLN1, NAADP, NEURODEGENERATION, PHOSPHATIDYLINOSITOL-3,5-BISPHOSPHATE, TPCN1, TPCN2

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1556537/1/s3.pdf; https://discovery.ucl.ac.uk/id/eprint/1556537/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1556537/1/s3.pdf
https://discovery.ucl.ac.uk/id/eprint/1556537/

المؤلفون: Yuehuan Li, Ahmed E. El Zowalaty, Christian Lee Andersen, Zidao Wang, Xiaoqin Ye

المصدر: Biol Reprod

مصطلحات موضوعية: Male, 0301 basic medicine, endocrine system, In situ hybridization, Luteal phase, Biology, Andrology, Mice, 03 medical and health sciences, Transient Receptor Potential Channels, Corpus Luteum, Mucolipidoses, Luteal Cells, medicine, Animals, Progesterone, MCOLN1, Mice, Knockout, 030102 biochemistry & molecular biology, Steroidogenic acute regulatory protein, Days post coitum, Cell Biology, General Medicine, medicine.disease, Lysosomal Storage Diseases, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, Vacuolization, Infertility, Female, Mucolipidosis type IV, Corpus luteum, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f37ebd61e457fb9f2773d1d30966af
https://doi.org/10.1093/biolre/ioz126

المؤلفون: Lorena Fernandez-Mosquera, Massimiliano Stagi, Ira Milosevic, Cátia V. Diogo, King Faisal Yambire, Nuno Raimundo, Amy H. Ponsford, Leonardo Pereyra, Kamil Pabis, Renata Couto

المصدر: Autophagy

مصطلحات موضوعية: 0301 basic medicine, AMPK, Mitochondrial Diseases, Cathepsin D, mTORC1, AMP-Activated Protein Kinases, MCOLN1, 03 medical and health sciences, PIKFYVE, Mice, Phosphatidylinositol 3-Kinases, lysosomes, Transient Receptor Potential Channels, Phosphatidylinositol Phosphates, Proto-Oncogene Proteins, Animals, Humans, calcium, lysosomal Ca, mitochondria, mitochondrial respiratory chain deficiency, Protein kinase A, Molecular Biology, Mechanistic target of rapamycin, Electron Transport Complex I, 030102 biochemistry & molecular biology, biology, Cell Death, Tumor Suppressor Proteins, Autophagosomes, Cell Biology, Fibroblasts, Cell biology, Mitochondria, lysosomal Ca2+, 030104 developmental biology, Mitochondrial respiratory chain, HEK293 Cells, biology.protein, TFEB, Research Paper, HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e9ff75f4f1edf2a4e27a55327a255ca
http://europepmc.org/articles/PMC6693470

المؤلفون: Lu Zhu, Yimei Dai, Funing Li, Wei Liu, Mingjie Zhang, Jiulin Du, Wenqing Zhang, Zhibin Huang, Wan Jin, Zilong Wen, Jianchao Li

المصدر: iScience, Vol 13, Iss, Pp 391-401 (2019)
iScience

مصطلحات موضوعية: 0301 basic medicine, animal structures, Endosome, 02 engineering and technology, Biology, Article, 03 medical and health sciences, Cellular neuroscience, Lysosome, medicine, lcsh:Science, Zebrafish, Late endosome, MCOLN1, Multidisciplinary, Model Organism, Microglia, Mucolipidosis, fungi, Clinical Neuroscience, 021001 nanoscience & nanotechnology, medicine.disease, biology.organism_classification, Cell biology, 030104 developmental biology, medicine.anatomical_structure, nervous system, Cellular Neuroscience, lcsh:Q, 0210 nano-technology, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaedd31698f96f071d754240ea88a2af
http://www.sciencedirect.com/science/article/pii/S2589004219300653

المؤلفون: Amir Pri-Or, Anthony H. Futerman, Yulia Grishchuk, Noa Wigoda, Ayelet Vardi

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Proteomics, 0301 basic medicine, lcsh:Medicine, Biology, Calbindin, Mice, 03 medical and health sciences, Transient Receptor Potential Channels, 0302 clinical medicine, Neuroinflammation, Mucolipidoses, Lysosome, Autophagy, medicine, Animals, Humans, Pharmacology (medical), Neuropathology, Genetics (clinical), PI3K/AKT/mTOR pathway, MCOLN1, Research, lcsh:R, Brain, General Medicine, Human brain, medicine.disease, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Mucolipidosis type IV, Lysosomes, TRPML1, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f465ce00adb36bccc1d33bc8265e4b
https://doi.org/10.1186/s13023-021-01679-7

المؤلفون: Madison Sangster, Susan A. Slaugenhaupt, Ru Xiao, Samantha DeRosa, Sarah Wassmer, Sierra Smith, Monica Salani, Victoria Miller-Browne, Luk H. Vandenberghe, Albert L. Misko, Yulia Grishchuk

المصدر: Human molecular genetics. 30(10)

مصطلحات موضوعية: Genetic enhancement, Disease, Biology, Bioinformatics, 03 medical and health sciences, Transient receptor potential channel, Mice, 0302 clinical medicine, Transient Receptor Potential Channels, Loss of Function Mutation, Mucolipidoses, Genetics, Paralysis, medicine, Animals, Humans, Vector (molecular biology), Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, MCOLN1, 0303 health sciences, Brain, General Medicine, Genetic Therapy, Dependovirus, Mucolipidosis IV, Disease Models, Animal, medicine.symptom, Nervous System Diseases, Lysosomes, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::722a05cde02c2e5c403b77d1be243ad5
https://pubmed.ncbi.nlm.nih.gov/33822942