ArticleNeurology. Genetics2020
Biallelic mutation of
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Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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8citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 40% of its field
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Pooled it
- Review
- Article
- Peroxisomal DBP deficiency causes male infertility through disruption of lipid homeostasis in Drosophila.Cellular and molecular life sciences : CMLS · 2026Article
- HSD17B4 mutation: an unusual cause of cerebellar ataxia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.International journal of molecular sciences · 2024Review
- CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.American journal of human genetics · 2023Article
- Two NovelFrontiers in pediatrics · 2021Article
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Authors and funding
13 authors at 1 institution in 2 countries.
Yukiko MatsudaDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.ORCID 0000-0002-6213-7745
Hiroyuki MorinoDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.ORCID 0000-0002-5190-3547
Ryosuke MiyamotoDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.
Takashi KurashigeDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.ORCID 0000-0002-5206-5979
Kodai KumeDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.ORCID 0000-0001-9266-2543
Noriyoshi MizunoDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.
Yuhei KanayaDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.
Yui TadaDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.
Ryosuke OhsawaDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.
Kazunori YokotaDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.
Nobuyuki ShimozawaDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.
Hirofumi MaruyamaDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.
Hideshi KawakamiDepartment of Epidemiology (Y.M., H. Morino, K.K., Y.K., Y.T., R.O., H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University; Japan Society for the Promotion of Science (Y.M.), Tokyo; the Department of Clinical Neuroscience (R.M.), Institute for Biomedical Science, Tokushima University; the Department of Neurology (T.K.), National Hospital Organization Kure Medical Center and Chugoku Cancer Center; the Department of Periodontal Medicine (N.M.), Graduate School of Biomedical and Sciences, Hiroshima University; the Department of Plastic Surgery (K.Y.), Hiroshima University Hospital; the Division of Genomics Research (N.S.), Life Science Research Center, Gifu University; the Department of Clinical Neuroscience and Therapeutics (H. Maruyama), Hiroshima University, Japan.ORCID 0000-0002-1405-0901
Hiroshima University · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo determine the genetic underpinnings of slowly progressive spinocerebellar ataxia, autosomal recessive (SCAR), we performed exome analysis and examined the relationship between clinical severity and functional change induced by the mutation.
methodsHomozygosity fingerprinting and exome sequencing were performed to identify causative mutations in 2 consanguineous families. We assessed the expression of D-bifunctional protein (DBP) and the amount of dimerized DBP in fibroblasts by immunoblot and quantitative reverse transcription PCR. The pathogenicity of the mutation was evaluated using the Combined Annotation-Dependent Depletion (CADD) scores; these results were compared with the scores of previously reported mutations.
resultsWe identified a homozygous mutation as causative of middle age-onset SCAR: p.Ala175Thr, which is located in
conclusionsThis is the report of middle age-onset DBP deficiency. Residual functional DBP caused relatively mild symptoms in the affected patients, i.e., slowly progressive ataxia and hearing loss. This study broadens the scope of DBP deficiency phenotypes and indicates that CADD scores may be used to estimate the severity of DBP deficiencies.
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