What is new in CDG?

J Jaeken, R Péanne - Journal of inherited metabolic disease, 2017 - Springer
Congenital disorders of glycosylation (CDG) are one group among the disorders of
glycosylation. The latter comprise defects associated with hypoglycosylation but also defects …

Congenital disorders of glycosylation: what clinicians need to know?

P Lipiński, A Tylki-Szymańska - Frontiers in pediatrics, 2021 - frontiersin.org
Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous
disorders characterized by defects in the synthesis of glycans and their attachment to …

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the …

ML Schilsky, EA Roberts, JM Bronstein, A Dhawan… - Hepatology, 2023 - journals.lww.com
Copper is an essential metal required for many metalloproteins' function. A fraction of dietary
copper (average 2–5 mg/day) is absorbed by enterocytes in the duodenum and proximal …

Genome-wide CRISPR screen identifies host dependency factors for influenza A virus infection

B Li, SM Clohisey, BS Chia, B Wang, A Cui… - Nature …, 2020 - nature.com
Host dependency factors that are required for influenza A virus infection may serve as
therapeutic targets as the virus is less likely to bypass them under drug-mediated selection …

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

HH Wang, LL Lin, ZJ Li, X Wei… - The Journal of …, 2024 - Am Soc Clin Investig
Recent studies using cell type–specific knockout mouse models have improved our
understanding of the pathophysiological relevance of suppressor of lin-12-like–HMG-CoA …

[PDF][PDF] SIRT1 Regulates N6‐Methyladenosine RNA Modification in Hepatocarcinogenesis by Inducing RANBP2‐Dependent FTO SUMOylation

X Liu, J Liu, W Xiao, Q Zeng, H Bo, Y Zhu, L Gong… - …, 2020 - Wiley Online Library
Background and Aims Hepatocellular carcinoma (HCC) is associated with high malignancy
rates. Recently, a known deacetylase silent information regulator 1 (SIRT1) was discovered …

Hepatic fat—genetic risk score predicts hepatocellular carcinoma in patients with cirrhotic HCV treated with DAAs

E Degasperi, E Galmozzi, S Pelusi, R D'Ambrosio… - Hepatology, 2020 - journals.lww.com
Conclusions In a large cohort of DAA‐treated patients with cirrhotic HCV, GRS was
associated with de novo HCC independently of classical risk factors, including liver disease …

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

EJR Jansen, S Timal, M Ryan, A Ashikov… - Nature …, 2016 - nature.com
The V-ATPase is the main regulator of intra-organellar acidification. Assembly of this
complex has extensively been studied in yeast, while limited knowledge exists for man. We …

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

D Marques-da-Silva, V Dos Reis Ferreira… - Journal of inherited …, 2017 - Springer
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases
caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present …

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

T Van Damme, T Gardeitchik, M Mohamed… - The American Journal of …, 2017 - cell.com
Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular
trafficking of membrane-enclosed compartments, including secretory granules, endosomes …