CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype-Reference-Cited by-同舟云学术

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CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype

Published:2008-01 Issue:1 Volume:93 Page:66-73
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bessa C.,Teixeira C.A.,Dias A.,Alves M.,Rocha S.,Lacerda L.,Loureiro L.,Guimarães A.,Ribeiro M.G.

Publisher

Elsevier BV

Subject

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

Reference32 articles.

1. The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH;Lin;J. Biol. Chem.,2001

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

3. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorders;Sleat;Am. J. Hum. Genet.,1999

4. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene;Hartikainen;Mol. Genet. Metab.,1999

5. Single base-pair substitutions in human gene mRNA splice junctions and their phenotypic consequences;Cooper,1993

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2. Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa;Molecular Genetics and Metabolism Reports;2024-03

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5. Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update;Journal of Clinical Medicine;2022-10-29

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