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

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Journal of medical genetics - 1 Mar 2007

Fernandez-Vizarra Erika, Berardinelli Angela, Valente Lucia, Tiranti Valeria, Zeviani Massimo

Abstract excerpt

INTRODUCTION: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy with lactic acidosis and sideroblastic anaemia. MLASA has been associated with a missense mutation in pseudouridylate synthase 1 (PUS1), an enzyme located in both nucleus and mitochondria, which converts uridine into pseudouridine in several cytosolic and mitochondrial tRNA positions...

Read the complete abstract on PubMed

Topics

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

Share to Acidosis, Lactic
Share to Anemia, Sideroblastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome-c Oxidase Deficiency

Share to Electron Transport Complex I

Share to Human Growth Hormone

Share to Hydro-Lyases

Share to Mitochondria, Muscle

Share to Mitochondrial Myopathies

Source

Open in PubMed Open full text

Identifiers

PMID: 17056637
DOI: 10.1136/jmg.2006.045252
PMCID: PMC2598032

Genes

PUS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).PMID 17056637Read ↗

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.Semantic proximity Read ↗

The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.Semantic proximity Read ↗

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.Semantic proximity Read ↗

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.Semantic proximity Read ↗

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.Semantic proximity Read ↗

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.Semantic proximity Read ↗

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.Semantic proximity Read ↗

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.Semantic proximity Read ↗

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.Semantic proximity Read ↗

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.Semantic proximity Read ↗

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.Semantic proximity Read ↗

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.Semantic proximity Read ↗

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