KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy
نویسندگان
چکیده
منابع مشابه
KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy.
KH-type splicing regulatory protein (KSRP) is closely related to chick zipcode-binding protein 2 and rat MARTA1, which are involved in neuronal transport and localization of beta-actin and microtubule-associated protein 2 mRNAs, respectively. KSRP is a multifunctional RNA-binding protein that has been implicated in transcriptional regulation, neuro-specific alternative splicing and mRNA decay. ...
متن کاملThe survival motor neuron protein in spinal muscular atrophy.
The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed genes: telomeric SMN (SMN(T)) and centromeric SMN (SMN(C)). Mutations in SMN(T), but not SMN(C), cause proximal spinal muscular atrophy (SMA), an autosomal recessive disorder that results in loss of motor neurons. SMN is found in the cytoplasm and nucleus. The nuclear form is located in structures termed gem...
متن کاملHuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.
Spinal muscular atrophy is an autosomal-recessive neuromuscular disease caused by disruption of the survival of motor neuron (SMN) gene, which promotes cytoplasmic assembly of the splicing core machinery. It remains unclear how a deficiency in SMN results in a disorder leading to selective degeneration of lower motor neurons. We report here that SMN interacts with RNA-binding protein HuD in neu...
متن کاملSurvival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy.
The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein and results in severe muscle weakness. In SMA mice, synaptic dysfunction of both neuromuscular junctions (NMJs) and central sensorimotor synapses precedes motor neuron cell death. To address whether this synaptic dysfunction is due to SMN deficiency in motor ...
متن کاملUbiquitin-specific protease 9x deubiquitinates and stabilizes the spinal muscular atrophy protein-survival motor neuron.
Spinal muscular atrophy (SMA), the leading genetic disorder of infant mortality, is caused by low levels of survival motor neuron (SMN) protein. Currently it is not clear how the SMN protein levels are regulated at the post-transcriptional level. In this report, we find that Usp9x, a deubiquitinating enzyme, stably associates with the SMN complex via directly interacting with SMN. Usp9x deubiqu...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2007
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddm327