Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive HF
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: Yohann Couté
LAB HEAD: Yohann Couté
PROVIDER: PXD030970 | Pride | 2022-10-19
REPOSITORIES: Pride
Binda Olivier O Juillard Franceline F Ducassou Julia Novion JN Kleijwegt Constance C Paris Geneviève G Didillon Andréanne A Baklouti Faouzi F Corpet Armelle A Couté Yohann Y Côté Jocelyn J Lomonte Patrick P
Life science alliance 20221114 1
Although recent advances in gene therapy provide hope for spinal muscular atrophy (SMA) patients, the pathology remains the leading genetic cause of infant mortality. SMA is a monogenic pathology that originates from the loss of the <i>SMN1</i> gene in most cases or mutations in rare cases. Interestingly, several <i>SMN1</i> mutations occur within the TUDOR methylarginine reader domain of SMN. We hypothesized that in <i>SMN1</i> mutant cases, SMA may emerge from aberrant protein-protein interact ...[more]