Article

Palmitoylation in neurodegeneration : analysis of cysteine-string protein mutants linked with neuronal ceroid lipofuscinosis

2017-01-01

Abstract excerpt

Neuronal Ceroid Lipofuscinoses (NCLs) are neurodegenerative lysosomal-storage disorders characterized by intracellular accumulation of autofluorescent material. Mutations in the DNAJC5 gene encoding Cysteine-String Protein alpha (CSPα) cause autosomal-dominant adult-onset NCL (ANCL). The disease-causing mutations occur within the cysteine-stringdomain (CSD), a region of the protein that is extensively palmitoylate...

Topics

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

Identifiers and source

Literature Corpus work: d97f0c5c-d897-569c-9112-0a5ee71304de
DOI: 10.48730/nt5z-n942

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Palmitoylation in neurodegeneration : analysis of cysteine-string protein mutants linked with neuronal ceroid lipofuscinosisDOI 10.48730/nt5z-n942Read

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.Semantic proximity Read

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.Semantic proximity Read

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.Semantic proximity Read

Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated CSPα mutants causes lipofuscin accumulationSemantic proximity Read

Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.Semantic proximity Read

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.Semantic proximity Read

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.Semantic proximity Read

Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders.Semantic proximity Read

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.Semantic proximity Read

Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.Semantic proximity Read

Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein Thioesterase 1 DeficiencySemantic proximity Read

Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.Semantic proximity Read