Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
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| Title: | Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population. |
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| Authors: | Inamori KI; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Nakamura K; Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan., Shishido F; Faculty of Medicine, Center for Medical Education, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Hsu JC; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Nagafuku M; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Nitta T; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.; Laboratory of Bioregulatory Clinical Phamacology, Faculty of Pharmacy, Juntendo University, Urayasu, Japan.; Institute for Environmental and Gender Specific Medicine, Juntendo University Graduate School of Medicine, Urayasu, Japan., Ikeda J; Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan., Yoshimura H; Department of Otorhinolaryngology-Head and Neck Surgery, Shinshu University School of Medicine, Matsumoto, Japan., Kodaira M; Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan., Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Uemura S; Division of Medical Biochemistry, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Ohno S; Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Manabe N; Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Yamaguchi Y; Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Togayachi A; Glycan and Life System Integration Center (GaLSIC), Soka University, Hachioji, Japan., Aoki-Kinoshita KF; Glycan and Life System Integration Center (GaLSIC), Soka University, Hachioji, Japan., Nishihara S; Glycan and Life System Integration Center (GaLSIC), Soka University, Hachioji, Japan., Furukawa JI; Institute for Glyco-core Research (iGCORE), Nagoya University, Nagoya, Japan., Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Nakamura M; Department of Neurosurgery, Matsumoto City Hospital, Matsumoto, Japan., Shimohata T; Department of Neurology, Gifu University Graduate School of Medicine, Gifu, Japan., Tadaka S; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan., Shirota M; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan., Kinoshita K; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan., Nakamura Y; Faculty of Medicine, Center for Medical Education, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Ohno I; Faculty of Medicine, Center for Medical Education, Tohoku Medical and Pharmaceutical University, Sendai, Japan., Sekijima Y; Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan., Inokuchi JI; Forefront Research Center, Graduate School of Science, Osaka University, Toyonaka, Japan. |
| Source: | Frontiers in neuroscience [Front Neurosci] 2024 Jul 31; Vol. 18, pp. 1437668. Date of Electronic Publication: 2024 Jul 31 (Print Publication: 2024). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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