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
Action | DRS | |||
---|---|---|---|---|
BirA-SMN-Y109C_R1.mgf | Mgf | |||
BirA-SMN-Y109C_R1.raw | Raw | |||
BirA-SMN-Y109C_R2.mgf | Mgf | |||
BirA-SMN-Y109C_R2.raw | Raw | |||
BirA-SMN-Y109C_R3.mgf | Mgf |
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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]