(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

0 references

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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page(s)

1288-300

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issue

7

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Pre-mRNA splicing and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Structural and functional insights into the human Upf1 helicase core

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Helicases: amino acid sequence comparisons and structure-function relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Large-scale proteomic analysis of the human spliceosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Comprehensive proteomic analysis of the human spliceosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

DEAD-box proteins: the driving forces behind RNA metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Chaperoning ribonucleoprotein biogenesis in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Two-step total gene synthesis method

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

pH dependent high transfection efficiency of mouse neuroblastomas using TransFectin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

The proteome of Saccharomyces cerevisiae mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028

inferred from DOI database lookup

7 January 2021

based on heuristic

Spinal muscular atrophy: the RNP connection

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP028