PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus-Reference-Cited by-同舟云学术

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Published:2020-03-11 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Yang Qi,Hua Rong,Qian Jiale,Yi Shang,Shen Fei,Zhang Qiang,Li Mengting,Yi Sheng,Luo Jingsi,Fan Xin

Funder

Natural Science Foundation of Guangxi Province

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference22 articles.

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2. PREPL, a prolyl endopeptidase-like enzyme by name only?–Lessons from patients.;Boonen;CNS Neurol. Disord. Drug Targets,2011

3. Familial aminoaciduria with muscular hypotonia and dwarfism.;Clara;Acad. R. Med. Belg.,1966

4. 2p21 Deletions in hypotonia-cystinuria syndrome.;Eggermann;Eur. J. Med. Genet.,2012

5. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.;Engel;Lancet Neurol.,2015

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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. Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions;2023-12-19

3. Regulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression;Nature Cell Biology;2023-09-28

4. Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models;Journal of Neuromuscular Diseases;2023-09-08

5. Multiomics Analyses Identify Proline Endopeptidase–Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer’s Disease Pathogenesis;Molecular Pharmacology;2023-05-05