CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationThe vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.What is new in CDG?Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.NANS-mediated synthesis of sialic acid is required for brain and skeletal development.Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).CDG Therapies: From Bench to Bedside.NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.Clinical glycomics for the diagnosis of congenital disorders of glycosylation.Modifier locus mapping of a transgenic F2 mouse population identifies CCDC115 as a novel aggressive prostate cancer modifier gene in humans.
P2860
Q28116046-2537E9B7-C93B-46C2-B96B-3B1B259C069FQ32884420-03863EA0-A24B-4718-87CB-48EE7D20CACCQ36973880-25A8C299-0B5B-4034-9701-C5C635F2B2D3Q39097165-57A68233-7A38-4A7C-9238-1CF18905FC79Q39292867-AB3A34C4-6EC6-417D-B100-840D5DA98FDCQ41826191-D258BE07-4B42-4E82-A63A-41EBC4F41D4FQ42696785-5035863D-233D-4D48-963E-A2B29980F633Q46058379-F0BBF8BF-5AF1-45F9-A075-EBE874A7D883Q47115793-F0BD29E2-43DA-4754-909A-D8CF73FBFD78Q47872107-DAC6C360-CA46-484E-89C0-7CDCB31DEC46Q48227636-869E482A-58B8-4A9A-9A0D-6DF688EF1871Q50117369-2C4CA0C6-B7EA-4C4E-AC70-92A814408896Q52558429-007FF292-ED3C-4789-8333-181ED84C8BB4Q53406175-EDEEE690-AB9E-4C51-8972-E1C9F75B8C33Q54959588-626E2D67-DD1D-4DE2-9D15-59C286BED4F6Q55265680-7D7E00CF-76E1-49F2-99ED-2124FD171C47
P2860
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
description
2016 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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im Februar 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2016/02/04)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/02/04)
@nl
наукова стаття, опублікована в лютому 2016
@uk
مقالة علمية (نشرت في 4-2-2016)
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name
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@ast
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@en
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
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type
label
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@ast
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@en
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@nl
prefLabel
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@ast
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@en
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@nl
P2093
P2860
P50
P3181
P1476
CCDC115 Deficiency Causes a Di ...... Abnormal Protein Glycosylation
@en
P2093
Adriaan G. Holleboom
Andrea Arnoldy
Angel Ashikov
Belén Pérez
Celia Pérez-Cerdá
Daisy Rymen
David Cheillan
Dirk J. Lefeber
Dorothée Vicogne
Eva Morava
P2860
P304
P3181
P356
10.1016/J.AJHG.2015.12.010
P407
P50
P577
2016-02-04T00:00:00Z