TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein 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.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.
P2860
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P2860
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
description
2016 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի փետրվարին հրատարակված գիտական հոդված
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artículu científicu espublizáu en 2016
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im Februar 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2016/02/04)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/02/04)
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наукова стаття, опублікована в лютому 2016
@uk
مقالة علمية (نشرت في 4-2-2016)
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name
TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
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TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
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TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
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type
label
TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
@ast
TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
@en
TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
@nl
prefLabel
TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
@ast
TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
@en
TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
@nl
P2093
P2860
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P3181
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TMEM199 Deficiency Is a Disord ...... rol and Abnormal Glycosylation
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Alexander Hoischen
Angel Ashikov
Dirk J Lefeber
Dorothée Vicogne
Eva Morava
Francesco Porta
François Foulquier
Gerry Steenbergen
Helen Michelakakis
Jody Salomon
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P304
P3181
P356
10.1016/J.AJHG.2015.12.011
P407
P50
P577
2016-02-04T00:00:00Z