Article

Small fibre neuropathy in Fabry disease: a human-derived neuronal <i>in vitro</i> disease model

2023-08-13

Abstract excerpt

Acral burning pain triggered by fever, thermal hyposensitivity, and skin denervation are hallmarks of small fibre neuropathy in Fabry disease, a life-threatening X-linked lysosomal storage disorder. Variants in the gene encoding alpha-galactosidase A may lead to impaired enzyme activity with cellular accumulation of globotriaosylceramide (Gb3). To study the underlying pathomechanism of Fabry-associated small fibre...

Topics

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

Identifiers and source

Literature Corpus work: 909c019a-5d23-5a19-b7ca-89cca0b5b337
DOI: 10.1101/2023.08.09.552621

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Small fibre neuropathy in Fabry disease: a human-derived neuronal <i>in vitro</i> disease modelDOI 10.1101/2023.08.09.552621Read

Axon guidance deficits in a human sensory neuron model of Fabry diseaseSemantic proximity Read

Schwann cell release of p11 induces sensory neuron hyperactivity in Fabry diseaseSemantic proximity Read

Neuropathic pain in a Fabry disease rat model.Semantic proximity Read

Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models.Semantic proximity Read

Fabry diseaseSemantic proximity Read

Current and experimental therapeutics for Fabry diseaseSemantic proximity Read

Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.Semantic proximity Read

Targeting <i>Gys1</i> with AAV‐SaCas9 decreases pathogenic polyglucosan bodies and neuroinflammation in Adult Polyglucosan Body and Lafora disease mouse modelsSemantic proximity Read

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compoundsSemantic proximity Read

Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson‐Fabry DiseaseSemantic proximity Read

Early striatal hyperexcitability in an <i>in vitro</i> human striatal microcircuit model carrying the Parkinson’s <i>GBA-N370S</i> mutationSemantic proximity Read

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.Semantic proximity Read