Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1-Reference-Cited by-同舟云学术

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Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1

Published:2023-11 Issue:3 Volume:140 Page:107656
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Cawley Niamh X.,Giddens Spencer,Farhat Nicole M.,Luke Rachel A.,Scott Katelin E.J.,Mohamed Hibaaq O.,Dang Do An,Berry-Kravis Elizabeth,Cologna Stephanie M.,Liu Fang,Porter Forbes D.

Funder

Novartis Pharmaceuticals Corporation

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institutes of Health

Ara Parseghian Medical Research Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. The transformation of drug development for the 21st century: time for a change;Kakkis;Mol. Genet. Metab.,2022

2. Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints;Kakkis;Orphanet J. Rare Dis.,2015

3. Niemann-Pick disease type C;Vanier;Orphanet J. Rare Dis.,2010

4. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets;Wassif;Genet. Med.,2016

5. Niemann-Pick disease: a review of eighteen patients;Crocker;Medicine (Baltimore),1958

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC);Orphanet Journal of Rare Diseases;2024-07-26

2. The importance of synthetic pharmacotherapy for recessive cerebellar ataxias;Expert Review of Neurotherapeutics;2024-07-09

3. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients;Orphanet Journal of Rare Diseases;2024-06-11

4. Alterations in Proteostasis Mechanisms in Niemann–Pick Type C Disease;International Journal of Molecular Sciences;2024-03-29

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