Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by the absence of a functional copy of the Survival of Motor Neuron 1 gene (SMN1). The nearly identical paralog, SMN2, cannot compensate for the loss of SMN1 because exon 7 is aberrantly skipped from most SMN2 transcripts, a process...

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Veröffentlicht in:	Protein science 2023-04, Vol.32 (4), p.e4553-n/a
Hauptverfasser:	Nadal, Marta, Anton, Rosa, Dorca‐Arévalo, Jonatan, Estébanez‐Perpiñá, Eva, Tizzano, Eduardo F., Fuentes‐Prior, Pablo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics alternative splicing Atrophy Binding Crosslinking Dimerization DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Domains Etiology Exons - genetics Full‐length Paper Full‐length Papers Function analysis Helices Heterogeneous Nuclear Ribonucleoprotein A1 - genetics hnRNP A1 homodimer Humans Mass spectrometry Mass spectroscopy Mitosis Monomers Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - metabolism Neurodegenerative diseases Neurodegenerative Diseases - genetics Neuromuscular diseases Proteins protein‐RNA interactions Ribonucleic acid RNA RNA binding proteins RNA Splicing RNA-Binding Proteins - genetics RNA-Binding Proteins - metabolism Sam68 SMN protein Spinal muscular atrophy Splicing STAR family members Structure-function relationships Survival of Motor Neuron 2 Protein - genetics Survival of Motor Neuron 2 Protein - metabolism x‐ray crystal structure
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