Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome-Reference-Cited by-同舟云学术

Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome

Published:2024-06 Issue:5 Volume:1870 Page:167175
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Bhalla Kritika,Rosier Karen,Monnens Yenthe,Meulemans Sandra,Vervoort Ellen,Thorrez Lieven,Agostinis Patrizia,Meier Daniel T.,Rochtus Anne,Resnick James L.,Creemers John W.M.

Funder

Foundation for Prader-Willi Research

Stichting Marguerite-Marie Delacroix

FWO

Publisher

Elsevier BV

Reference68 articles.

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3. The spectrum of the Prader–Willi-like pheno- and genotype: a review of the literature;Juriaans;Endocr. Rev.,2022

4. Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome;Burnett;J. Clin. Invest.,2017

5. Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome;Polex-Wolf;J. Clin. Invest.,2018

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1. Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions;JCI Insight;2024-09-10

2. PEX14 acts as the interface linking optineurin to cell type-selective pexophagy;2024-05-31