Vesicle trafficking with snares: a perspective for autism

OZDEMIR, Cilem; Şahın, Nilfer; Edgünlü, Tuba Gökdoğan

doi:10.1007/s11033-022-07970-5

Cited by 4 publications

(1 citation statement)

References 102 publications

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“…Recent advances in sequencing technology have confirmed that the etiology of ASDs is multigenic and highly heterogeneous. Among the candidate genes, the ones related to the SNARE complex (SNAP25, STX1A, and VAMP2) have also been described as pathogenetic for ASDs [16].…”

Section: Of 12mentioning

confidence: 99%

STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy

Vinci,

Costanza,

Galati Rando

et al. 2023

IJMS

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Syntaxin-binding protein 6 (STXBP6), also known as amysin, is an essential component of the SNAP receptor (SNARE) complex and plays a crucial role in neuronal vesicle trafficking. Mutations in genes encoding SNARE proteins are often associated with a broad spectrum of neurological conditions defined as “SNAREopathies”, including epilepsy, intellectual disability, and neurodevelopmental disorders such as autism spectrum disorders. The present whole exome sequencing (WES) study describes, for the first time, the occurrence of developmental epileptic encephalopathy and autism spectrum disorders as a result of a de novo deletion within the STXBP6 gene. The truncated protein in the STXBP6 gene leading to a premature stop codon could negatively modulate the synaptic vesicles’ exocytosis. Our research aimed to elucidate a plausible, robust correlation between STXBP6 gene deletion and the manifestation of developmental epileptic encephalopathy.

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Section: Of 12mentioning

confidence: 99%