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

Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.

Neurogastroenterology and motility - 1 Apr 2020

Lynch-Godrei Anisha, De Repentigny Yves, Yaworski Rebecca A, Gagnon Sabrina, Butcher James, Manoogian Juliana, Stintzi Alain, Kothary Rashmi

Abstract excerpt

BACKGROUND: Dystonia musculorum (Dstdt ) is a murine disease caused by recessive mutations in the dystonin (Dst) gene. Loss of dorsal root ganglion (DRG) sensory neurons, ataxia, and dystonic postures before death by postnatal day 18 (P18) is a hallmark feature. Recently we observed gas accumulation and discoloration in the small intestine and cecum in Dstdt mice by P15. The human disease resulting from dystonin...

Read the complete abstract on PubMed

Topics

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

Share to Disease Models, Animal
Share to Enteric Nervous System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gastrointestinal Microbiome

Share to Gastrointestinal Tract

Share to Hereditary Sensory and Autonomic Neuropathies

Share to Mice, Inbred C57BL

Share to Mice, Mutant Strains

Source

Identifiers

PMID: 31814231
DOI: 10.1111/nmo.13773

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.PMID 31814231Read ↗

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin.Semantic proximity Read ↗

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.Semantic proximity Read ↗

Sensory-motor circuit is a therapeutic target for dystonia musculorum mice, a model of hereditary sensory and autonomic neuropathy 6.Semantic proximity Read ↗

DYT1 mutation alters gut microbiome composition and gut-brain axis dynamics in a mouse modelSemantic proximity Read ↗

Motor unit abnormalities in Dystonia musculorum mice.Semantic proximity Read ↗

Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice.Semantic proximity Read ↗

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.Semantic proximity Read ↗

Bowel dysmotility and enteric neuron degeneration in lysosomal storage disease mice is prevented by gene therapySemantic proximity Read ↗

Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in miceSemantic proximity Read ↗

Recent advances in understanding and managing malabsorption: focus on microvillus inclusion diseaseSemantic proximity Read ↗

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.Semantic proximity Read ↗

ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis.Semantic proximity Read ↗

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