TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

doi:10.1172/JCI97103

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

Community

Back to search

Article

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

The Journal of clinical investigation - 1 Mar 2018

Lee YouJin, Jonson Per Harald, Sarparanta Jaakko, Palmio Johanna, Sarkar Mohona, Vihola Anna, Evilä Anni, Suominen Tiina, Penttilä Sini, Savarese Marco, Johari Mridul, Minot Marie-Christine, Hilton-Jones David, Maddison Paul, Chinnery Patrick, Reimann Jens, Kornblum Cornelia, Kraya Torsten, Zierz Stephan, Sue Carolyn, Goebel Hans, Azfer Asim, Ralston Stuart H, Hackman Peter, Bucelli Robert C, Taylor J Paul, Weihl Conrad C, Udd Bjarne

Abstract excerpt

Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and autophagic protein degradation that underlie the pathogenesis of a spectrum of degenerative diseases that affect muscle, brain, and bone. Specifically, identical mutations in the autophagic adaptor SQSTM1 can cause varied penetrance of 4 distinct phenotypes: amyotrophic lateral sclerosis (ALS), frontotemporal dementia,...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Autophagy

Share to Distal Myopathies

Share to Frontotemporal Dementia

Share to Homeostasis

Share to Muscle, Skeletal

Share to Osteitis Deformans

Share to Sequestosome-1 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 29457785
DOI: 10.1172/JCI97103
PMCID: PMC5824866

Genes

SQSTM1
TIA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.PMID 29457785Read ↗

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.Semantic proximity Read ↗

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.Semantic proximity Read ↗

Molecular Mechanisms of Protein Aggregation in ALS-FTD: Focus on TDP-43 and Cellular Protective ResponsesSemantic proximity Read ↗

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.Semantic proximity Read ↗

Stress Granule Homeostasis, Aberrant Phase Transition, and Amyotrophic Lateral Sclerosis.Semantic proximity Read ↗

Droplets of amyotrophic lateral sclerosis-associated p62/SQSTM1 mutants show slower inner fluiditySemantic proximity Read ↗

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.Semantic proximity Read ↗

Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis.Semantic proximity Read ↗

Defining the landscape of TIA1 and SQSTM1 digenic myopathy.Semantic proximity Read ↗

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.Semantic proximity Read ↗

Parkinson's disease-specific α-Synuclein variants potentially drive Lewy body formation by engaging in promiscuous and non-functional interactions.Semantic proximity Read ↗

Disease-associated mutations affect TIA1 phase separation and aggregation in a proline-dependent manner.Semantic proximity Read ↗

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