Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium-Reference-Cited by-同舟云学术

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Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium

Published:2020-10 Issue:10 Volume:1866 Page:165883
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:

Zhong Yu,Mohan Kabhilan,Liu Jinpeng,Al-Attar Ahmad,Lin Penghui,Flight Robert M.,Sun Qiushi,Warmoes Marc O.,Deshpande Rahul R.,Liu Huijuan,Jung Kyung Sik,Mitov Mihail I.,Lin Nianwei,Butterfield D. Allan,Lu Shuyan,Liu Jinze,Moseley Hunter N.B.,Fan Teresa W.M.,Kleinman Mark E.,Wang Qing Jun

Funder

National Science Foundation

BrightFocus Foundation

Ellison Medical Foundation

National Institutes of Health

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference185 articles.

1. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth;Cotman;Hum. Mol. Genet.,2002

2. Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease);Ouseph;Ann. N. Y. Acad. Sci.,2016

3. Cardiac pathology in neuronal ceroid lipofuscinoses-a clinicopathologic correlation in three patients;Hofman;Eur J Paediatr Neurol,2001

4. Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease);Ostergaard;Neurology,2011

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1. TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells;Scientific Reports;2024-07-29

2. Mutant mice with rod-specific VPS35 deletion exhibit retinal α-synuclein pathology-associated degeneration;Nature Communications;2024-07-23

3. Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease;2024-06-09

4. Characterization of sleep in a mouse model of CLN3 disease revealed sex-specific sleep disturbances;2024-05-26

5. Loss of CLN3 in microglia leads to impaired lipid metabolism and myelin turnover;2024-02-02

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