Cln3 ‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome-Reference-Cited by-同舟云学术

Cln3 ‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome

Published:2019-05-14 Issue:5 Volume:42 Page:944-954
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Appu Abhilash P.¹,Bagh Maria B.¹,Sadhukhan Tamal¹,Mondal Avisek¹,Casey Sydney¹,Mukherjee Anil B.¹^ORCID

Affiliation:

1. Section on Developmental Genetics, Program on Endocrinology and Molecular GeneticsEunice Kennedy‐Shriver National Institute of Child Health and Human Development, National Institutes of Health Bethesda Maryland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12106

Reference43 articles.

1. Blood to brain to the rescue

2. Human pathology in NCL

3. Cell biology of the NCL proteins: What they do and don't do

4. Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

5. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Cited by 16 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. Deacylases—structure, function, and relationship to diseases;FEBS Letters;2024-04-21

2. Autophagy inhibitors for cancer therapy: Small molecules and nanomedicines;Pharmacology & Therapeutics;2023-09

3. The conserved cellular roles of CLN proteins: Novel insights from Dictyostelium discoideum;European Journal of Cell Biology;2023-06

4. Recent insights into the networking of CLN genes and proteins in mammalian cells;Journal of Neurochemistry;2023-04-28

5. Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging;Documenta Ophthalmologica;2023-03-25