ArticleNeurogenetics2016
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
Article in Neurogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- THG1L- associated early childhood-onset cerebellar ataxia with atrophy and developmental delay.Neurogenetics · 2026Article
- Reconnaissance of the Good, the Bad, and the Ugly Role of tRNAs in Carcinogenesis and Metastasis.Experientia supplementum (2012) · 2026Review
- Thg1 family 3'-5' RNA polymerases as tools for targeted RNA synthesis.RNA (New York, N.Y.) · 2024Article
- Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.Journal of human genetics · 2023Article
- The life and times of a tRNA.RNA (New York, N.Y.) · 2023Review
- Differential protein expression in endothelial cells exposed to serum from patients with acute graft-vs-host disease, depending on steroid response.Journal of cellular and molecular medicine · 2023Article
- Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.Cerebellum (London, England) · 2022Article
- Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications.The FEBS journal · 2021Review
- Targeting mitochondrial and cytosolic substrates of TRIT1 isopentenyltransferase: Specificity determinants and tRNA-i6A37 profiles.PLoS genetics · 2020Article
- Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.American journal of medical genetics. Part A · 2019Review
- Genetic Interactions and Molecular Evolution of the Duplicated GenesThe Plant cell · 2019Article
- Matching tRNA modifications in humans to their known and predicted enzymes.Nucleic acids research · 2019Article
- Genomic and phenotypic delineation of congenital microcephaly.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Systematic review of autosomal recessive ataxias and proposal for a classification.Cerebellum & ataxias · 2017Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Autosomal-recessive cerebellar atrophy is usually associated with inactivating mutations and early-onset presentation. The underlying molecular diagnosis suggests the involvement of neuronal survival pathways, but many mechanisms are still lacking and most patients elude genetic diagnosis. Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. THG1L protein was previously reported to participate in mitochondrial fusion via its interaction with MFN2. Abnormal mitochondrial fragmentation, including mitochondria accumulation around the nuclei and confinement of the mitochondrial network to the nuclear vicinity, was observed when patient fibroblasts were cultured in galactose containing medium. Culturing cells in galactose containing media promotes cellular respiration by oxidative phosphorylation and the action of the electron transport chain thus stimulating mitochondrial activity. The growth defect of the yeast thg1Δ strain was rescued by the expression of either yeast Thg1 or human THG1L; however, clear growth defect was observed following the expression of the human p.Val55Ala THG1L or the corresponding yeast mutant. A defect in the protein tRNA
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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.