Association of the mammalian helicase MAH with the pre-mRNA splicing complex
about
Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complexIGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)Biochemical and genetic evidence for a role of IGHMBP2 in the translational machineryDNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.Spinal muscular atrophy with respiratory distress type 1 (SMARD1).Amelioration of toxicity in neuronal models of amyotrophic lateral sclerosis by hUPF1.RNA processing defects associated with diseases of the motor neuronClinical diversity caused by novel IGHMBP2 variants.A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1
P2860
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P2860
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh
1997年學術文章
@zh-hant
name
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
@ast
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
@en
type
label
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
@ast
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
@en
prefLabel
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
@ast
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
@en
P2093
P2860
P356
P1476
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
@en
P2093
P2860
P304
P356
10.1073/PNAS.94.15.7831
P407
P50
P577
1997-07-01T00:00:00Z