ArticlePLoS genetics2014
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 44 citations in OpenAlex.
- Article
- Review
- Preclinical assessment of MAGMAS inhibitor as a potential therapy for pediatric medulloblastoma.PloS one · 2024Article
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- Gene expression in notochord and nuclei pulposi: a study of gene families across the chordate phylum.BMC ecology and evolution · 2023Article
- Functional mapping of N-terminal residues in the yeast proteome uncovers novel determinants for mitochondrial protein import.PLoS genetics · 2023Article
- A Novel Homozygous Nonsense Variant in theGenes · 2023Article
- J-like protein family of Arabidopsis thaliana: the enigmatic cousins of J-domain proteins.Plant cell reports · 2022Review
- Mitochondrial Protein Homeostasis and Cardiomyopathy.International journal of molecular sciences · 2022Review
- Multiple variants of the human presequence translocase motor subunit Magmas govern the mitochondrial import.The Journal of biological chemistry · 2021Article
- Review
- Role of the Mitochondrial Protein Import Machinery and Protein Processing in Heart Disease.Frontiers in cardiovascular medicine · 2021Review
- Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.International journal of molecular sciences · 2020Review
- Review
- Novel Compound Heterozygous Mutations inFrontiers in genetics · 2020Article
- Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.The Journal of clinical investigation · 2019Article
- Mitochondrial proteins: from biogenesis to functional networks.Nature reviews. Molecular cell biology · 2019Review
- Mutations inEMBO molecular medicine · 2018Article
- Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.American journal of human genetics · 2016Article
- Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Disease models & mechanisms · 2015Review
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex process. Here, we report a homozygous mutation in the mitochondria-associated granulocyte macrophage colony stimulating factor-signaling gene (MAGMAS) in a novel and severe spondylodysplastic dysplasia. MAGMAS, also referred to as PAM16 (presequence translocase-associated motor 16), is a mitochondria-associated protein involved in preprotein translocation into the matrix. We show that MAGMAS is specifically expressed in trabecular bone and cartilage at early developmental stages and that the mutation leads to an instability of the protein. We further demonstrate that the mutation described here confers to yeast strains a temperature-sensitive phenotype, impairs the import of mitochondrial matrix pre-proteins and induces cell death. The finding of deleterious MAGMAS mutations in an early lethal skeletal dysplasia supports a key role for this mitochondrial protein in the ossification process.
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