Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of human genetics - 12 Aug 2011

Nosková Lenka, Stránecký Viktor, Hartmannová Hana, Přistoupilová Anna, Barešová Veronika, Ivánek Robert, Hůlková Helena, Jahnová Helena, van der Zee Julie, Staropoli John F, Sims Katherine B, Tyynelä Jaana, Van Broeckhoven Christine, Nijssen Peter C G, Mole Sara E, Elleder Milan, Kmoch Stanislav

Abstract excerpt

Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and neurodegeneration and has an age of onset in the third decade of life or later. The genetic and molecular basis of the disease has remained unknown for many years. We carried out linkage mapping, gene-expression analysis, exome sequencing, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Segregation
Share to Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Genes, Dominant

Share to HSP40 Heat-Shock Proteins

Share to Lipoylation

Share to Lysosomes

Share to Neuronal Ceroid-Lipofuscinoses

Source

Open in PubMed Open full text

Identifiers

PMID: 21820099
DOI: 10.1016/j.ajhg.2011.07.003
PMCID: PMC3155175

Genes

DNAJC5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.PMID 21820099Read ↗

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

Palmitoylation in neurodegeneration : analysis of cysteine-string protein mutants linked with neuronal ceroid lipofuscinosisSemantic proximity Read ↗

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

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.Semantic proximity Read ↗

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

Cysteine String Protein alpha in Extracellular Vesicle Subtypes: a Proteomic AnalysisSemantic proximity Read ↗

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

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

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

Neuronal lipofuscinosis caused by Kufs disease/CLN4 <i>DNAJC5</i> mutations but not by a CSPα/DNAJC5 deficiencySemantic proximity Read ↗

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.Semantic proximity Read ↗

Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.