IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1) (Q24319069)

5'-3' DNA helicase activity

GOA release 2020-03-11

1 reference

DNA-binding protein SMUBP-2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Albert Sickmann

10

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Niels H Gehring

9

object named as

Niels Gehring

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author name string

Ulf-Peter Guenther

1

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Lusy Handoko

2

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Bernhard Laggerbauer

3

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Sibylle Jablonka

4

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Ashwin Chari

5

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Mona Alzheimer

6

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Jürgen Ohmer

7

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Oliver Plöttner

8

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Katja von Au

11

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Markus Schuelke

12

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Utz Fischer

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

13

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language of work or name

English

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publication date

1 April 2009

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published in

Human Molecular Genetics

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volume

18

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issue

7

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page(s)

1288-300

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cites work

1 reference

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Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

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Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

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Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

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Pre-mRNA splicing and human disease

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Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

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Structural and functional insights into the human Upf1 helicase core

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Helicases: amino acid sequence comparisons and structure-function relationships

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Association of the mammalian helicase MAH with the pre-mRNA splicing complex

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A novel human hexameric DNA helicase: expression, purification and characterization

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Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences

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Molecular characterization of the rat insulin enhancer-binding complex 3b2. Cloning of a binding factor with putative helicase motifs

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Smubp-2 represses the Epstein-Barr virus lytic switch promoter

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Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors

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Large-scale proteomic analysis of the human spliceosome

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DExD/H-box proteins and their partners: helping RNA helicases unwind

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Genetic and biochemical characterization of mutations in the ATPase and helicase regions of the Upf1 protein

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FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association

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The sen1(+) gene of Schizosaccharomyces pombe, a homologue of budding yeast SEN1, encodes an RNA and DNA helicase

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DEAD-box proteins: the driving forces behind RNA metabolism

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Site-directed mutagenesis of motif III in PcrA helicase reveals a role in coupling ATP hydrolysis to strand separation.

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Biochemical analyses of mutations in the HSV-1 helicase-primase that alter ATP hydrolysis, DNA unwinding, and coupling between hydrolysis and unwinding

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Uncoupling DNA translocation and helicase activity in PcrA: direct evidence for an active mechanism.

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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

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Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

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Chaperoning ribonucleoprotein biogenesis in health and disease

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Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

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Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy

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Two-step total gene synthesis method

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Identification of an RNA-dependent ATPase activity in mammalian U5 snRNPs

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pH dependent high transfection efficiency of mouse neuroblastomas using TransFectin

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Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid proteins

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inferred from DOI database lookup

7 January 2021

based on heuristic

Differential recruitment of the splicing machinery during transcription predicts genome-wide patterns of mRNA splicing

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Spinal muscular atrophy: the RNP connection

1 reference

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