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

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Human molecular genetics - 15 Jun 2012

Bras Jose, Verloes Alain, Schneider Susanne A, Mole Sara E, Guerreiro Rita J

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent lipopigment, neurodegeneration and premature death. Nine genes have been thus far identified as the cause of different types of NCL, with ages at onset ranging from around birth to adult, although the underlying etiology of the disease still remains elusive. We...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Exome
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Neuronal Ceroid-Lipofuscinoses

Share to Parkinsonian Disorders

Share to Proton-Translocating ATPases

Share to Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 22388936
DOI: 10.1093/hmg/dds089
PMCID: PMC3363329

Genes

NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.PMID 22388936Read ↗

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Semantic proximity Read ↗

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Semantic proximity Read ↗

Functional characterization of ATP13A2 variants associated with distinct neurodegenerative disordersSemantic proximity Read ↗

Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.Semantic proximity Read ↗

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficitsSemantic proximity Read ↗

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid LipofuscinosesSemantic proximity Read ↗

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Semantic proximity Read ↗

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansionSemantic proximity Read ↗

Lysosomal dysfunction in Parkinson diseaseSemantic proximity Read ↗

Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.Semantic proximity Read ↗

From rare to common and back again: 60years of lysosomal dysfunction.Semantic proximity Read ↗

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.Semantic proximity Read ↗

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