ArticleNeurogenetics2016
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Article in Neurogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.Nucleic acids research · 2026Article
- Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.Journal of human genetics · 2026Article
- Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novelHaematologica · 2025Article
- Assessment of the respiratory chain enzyme activity in peripheral blood monocytes for the noninvasive diagnostics of mitochondrial disease.World journal of pediatrics : WJP · 2025Article
- Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.Annals of hematology · 2025Article
- Why U matters: detection and functions of pseudouridine modifications in mRNAs.Trends in biochemical sciences · 2024Review
- Article
- The importance of pseudouridylation: human disorders related to the fifth nucleoside.Biologia futura · 2023Review
- Epitranscriptomic Modifications Modulate Normal and Pathological Functions in CNS.Translational stroke research · 2022Review
- RNA Modifications and RNA Metabolism in Neurological Disease Pathogenesis.International journal of molecular sciences · 2021Review
- Epitranscriptomic regulation of transcriptome plasticity in development and diseases of the brain.BMB reports · 2020Review
- MLASA1 is a poly-phenic but not a di-phenic condition.Molecular genetics and metabolism reports · 2019Article
- The epitranscriptome and synaptic plasticity.Current opinion in neurobiology · 2019Review
- Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.Molecular genetics and metabolism reports · 2019Review
- A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.Cold Spring Harbor molecular case studies · 2019Article
- Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.American journal of human genetics · 2018Article
- Mitochondrial DNA transcription and translation: clinical syndromes.Essays in biochemistry · 2018Review
- A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.Turkish journal of haematology : official journal of Turkish Society of Haematology · 2017Article
- Eukaryotic stand-alone pseudouridine synthases - RNA modifying enzymes and emerging regulators of gene expression?RNA biology · 2017Review
- Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.JAMA neurology · 2017Observational
Corrections and comments
- Erratum issuedErratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.2016 · Valentino, Lucia [Corrected to Valentino, M. Lucia]
- Erratum issuedErratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.2017 · Carozzo, Rosalba [Corrected to Carrozzo, Rosalba]
Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.