Article

Generation of Pathogenic <i>TPP1</i> Mutations in Human Stem Cells as a Model for CLN2 Disease

2021-01-06

Abstract excerpt

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2 to 4 years of age and characterized by seizures, loss of vision, progressive motor and mental decline, and premature death. CLN2 disease is caused by loss-of-function mutations in the tripeptidyl peptidase 1 ( TPP1 ) gene leading to deficiency in TPP1 enzyme activity. Approximately 6...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 706e34d8-70e9-5ff9-82b0-1460ab5327d5
DOI: 10.1101/2021.01.05.425495

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Generation of Pathogenic <i>TPP1</i> Mutations in Human Stem Cells as a Model for CLN2 DiseaseDOI 10.1101/2021.01.05.425495Read

Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease.Semantic proximity Read

Exploring Prime Editing strategies for genetic correction of a Ceroid Neuronal Lipofuscinosis type 2 disease causing variantSemantic proximity Read

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 diseaseSemantic proximity Read

Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.Semantic proximity Read

A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapiesSemantic proximity Read

Generation of an iPSC line (SKLOi001-A) from a patient with CLCN2-related leukoencephalopathy.Semantic proximity Read

Generation of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene.Semantic proximity Read

Mice homozygous for c.451C>T mutation in <i>Cln1</i> gene recapitulate <scp>INCL</scp> phenotypeSemantic proximity Read

Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations.Semantic proximity Read

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)Semantic proximity Read

Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses.Semantic proximity Read

Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene.Semantic proximity Read