Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation-Reference-Cited by-同舟云学术

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Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation

Published:2019-07 Issue: Volume:69 Page:180-185
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Chen Zi-Rong,Liu De-Tian,Meng Heng,Liu Liu,Bian Wen-Jun,Liu Xiao-Rong,Zhu Wei-Wen,He Yong,Wang Jie,Tang Bin,Su Tao,Yi Yong-Hong

Funder

National Natural Science Foundation of China

Science and Technology Project of Guangzhou

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology,General Medicine

Reference33 articles.

1. Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis;Ezaki;Biochem Biophys Res Commun,2000

2. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

3. Tripeptidyl-peptidase I in health and disease;Golabek;Biol Chem,2006

4. Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis;Sleat;Mol Genet Metab,2008

5. Genetics of the neuronal ceroid lipofuscinoses (Batten disease);Mole;Biochim et Biophys Acta (BBA) Mol Basis Dis,2015

Cited by 13 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. A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis;Metabolic Brain Disease;2024-01-08

2. A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy;Folia Neuropathologica;2024

3. Molecular analysis in exons 1 and 2 of the tripeptidyl peptidase 1 (TPP1) gene on patients with neuronal ceroid lipofuscinosis type 2 (CLN2) in Indonesia;AIP Conference Proceedings;2024

4. TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2;Molecular Syndromology;2023-10-16

5. Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report;World Journal of Clinical Cases;2023-09-26

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