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

Mutant HSPB8 causes motor neuron-specific neurite degeneration.

Human molecular genetics - 15 Aug 2010

Irobi Joy, Almeida-Souza Leonardo, Asselbergh Bob, De Winter Vicky, Goethals Sofie, Dierick Ines, Krishnan Jyothsna, Timmermans Jean-Pierre, Robberecht Wim, De Jonghe Peter, Van Den Bosch Ludo, Janssens Sophie, Timmerman Vincent

Abstract excerpt

Missense mutations (K141N and K141E) in the alpha-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron dise...

Read the complete abstract on PubMed

Topics

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

Share to Amyloid beta-Protein Precursor
Share to Heat-Shock Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Nick-End Labeling

Share to Motor Neurons

Share to Muscle Proteins

Share to Neurites

Share to Neuroglia

Share to Rats, Wistar

Source

Open in PubMed Open full text

Identifiers

PMID: 20538880
DOI: 10.1093/hmg/ddq234
PMCID: PMC2908473

Genes

HSPB8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20538880-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutant HSPB8 causes motor neuron-specific neurite degeneration.PMID 20538880Read ↗

Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.Semantic proximity Read ↗

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.Semantic proximity Read ↗

Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series.Semantic proximity Read ↗

HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes.Semantic proximity Read ↗

Neuronal diseases: small heat shock proteins calm your nerves.Semantic proximity Read ↗

HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.Semantic proximity Read ↗

Stress-Driven Selective Neuronal Vulnerability in Charcot-Marie-Tooth Disease: From Prodromal Pathology to Therapeutic Implications.Semantic proximity Read ↗

A Charcot-Marie-Tooth-Causing Mutation in HSPB1 Decreases Cell Adaptation to Repeated Stress by Disrupting Autophagic Clearance of Misfolded Proteins.Semantic proximity Read ↗

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neuronsSemantic proximity Read ↗

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.Semantic proximity Read ↗

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Semantic proximity Read ↗

HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cellsSemantic proximity Read ↗

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