Article

Axon guidance deficits in a human sensory neuron model of Fabry disease

2025-09-05

Abstract excerpt

Fabry disease (FD) is a rare genetic galactosidase alpha ( GLA ) gene associated lysosomal disorder caused by alpha-galactosidase A (AGAL) deficiency, leading to sphingolipid (globotriaosylceramide, Gb3) accumulation in multiple tissues. Burning pain due to small fiber neuropathy is an early symptom with great impact on health- related quality of life. The pathophysiological role of Gb3 accumulations in sensory n...

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Literature Corpus work: 5ac4f02b-5be3-5d57-8d23-343ce8fa698d
DOI: 10.1101/2025.09.01.673441

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