Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery

19 Mar 2009

Abstract excerpt

The human motor neuron degenerative disease spinal muscular atrophy with respiratory distress type 1 (SMARD1) is caused by loss of function mutations of immunoglobulin mu-binding protein 2 (IGHMBP2), a protein of unknown function that contains DNA/RNA helicase and nucleic acid-binding domains. Reduced IGHMBP2 protein levels in neuromuscular degeneration (nmd) mice, the mouse model of SMARD1, lead to motor neuron...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetics and Neurodevelopmental Disorders
Share to Muscle Physiology and Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19299493
DOI: 10.1093/hmg/ddp134

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machineryPMID 19299493Read ↗

ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activitySemantic proximity Read ↗

The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.Semantic proximity Read ↗

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)Semantic proximity Read ↗

IGHMBP2 deletion suppresses translation and activates the integrated stress responseSemantic proximity Read ↗

Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.Semantic proximity Read ↗

The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1Semantic proximity Read ↗

The <i>Ighmbp2</i> -R604X mouse recapitulates the severe SMARD1 clinical symptoms of aspiration, respiratory and feeding deficitsSemantic proximity Read ↗

Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.Semantic proximity Read ↗

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.Semantic proximity Read ↗

The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.Semantic proximity Read ↗

Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survivalSemantic proximity Read ↗

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).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.