ArticleNeurology. Genetics2019
Novel pathogenic
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Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
What it found
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Who cites it
19 citing papers in PubMed, 24 citations in OpenAlex.
- Four subtypes of disease-causing missense mutations underlie pathogenic protein interactions in neurodegenerative VPS13A disease.The Journal of clinical investigation · 2026Article
- Exploring the pathophysiological mechanisms and wet biomarkers ofFrontiers in neurology · 2024Review
- The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.Frontiers in neuroscience · 2024Article
- Endoplasmic Reticulum Membrane Contact Sites, Lipid Transport, and Neurodegeneration.Cold Spring Harbor perspectives in biology · 2023Review
- A case of McLeod syndrome caused by a nonsense variation c.942G>A in theFrontiers in genetics · 2023Article
- Identification of novel proteins involved in P2X7-mediated signaling cascades.Purinergic signalling · 2022Article
- Impaired XK recycling for importing manganese underlies striatal vulnerability in Huntington's disease.The Journal of cell biology · 2022Article
- Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans.Journal of cell science · 2022Article
- A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.Movement disorders clinical practice · 2022Article
- Yeast as a Model to Find New Drugs and Drug Targets forInternational journal of molecular sciences · 2022Review
- Requirement of Xk and Vps13a for the P2X7-mediated phospholipid scrambling and cell lysis in mouse T cells.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Blood Groups and Their Correlation with Hereditary Disease.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2022Article
- XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2022Review
- Insights into VPS13 properties and function reveal a new mechanism of eukaryotic lipid transport.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2021Review
- Disposition of Proteins and Lipids in Synaptic Membrane Compartments Is Altered in Q175/Q7 Huntington's Disease Mouse Striatum.Frontiers in synaptic neuroscience · 2021Article
- XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.Molecular biology of the cell · 2020Article
- A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.BMC neurology · 2019Article
- VPS13 Forum Proceedings: XK, XK-Related and VPS13 Proteins in Membrane Lipid Dynamics.Contact (Thousand Oaks (Ventura County, Calif.))Article
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Authors and funding
20 authors at 5 institutions in 1 country.
Yuka UrataDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Masayuki NakamuraDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Natsuki SasakiDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Nari ShiokawaDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Yoshiaki NishidaDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Kaoru AraiDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Hanae HiwatashiDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Izumi YokoyamaDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Shinsuke NarumiDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Yasuo TerayamaDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Takenobu MurakamiDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Yoshikazu UgawaDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Hiroki SakamotoDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Satoshi KanekoDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Yusuke NakazawaDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Ryo YamasakiDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Shoko SadashimaDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Toshiaki SakaiDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Hiroaki AraiDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Akira SanoDepartment of Psychiatry (Y. Urata, M.N., N. Sasaki, N. Shiokawa, Y. Nishida, K.A., H.H., I.Y., A.S.), Kagoshima University Graduate School of Medical and Dental Sciences; Department of Neurology and Gerontology (S.N., Y.T.), Iwate Medical University, Morioka; Department of Neurology (T.M.), School of Medicine, Fukushima Medical University; Department of Neuro-regeneration, Department of Neurology (Y. Ugawa), School of Medicine, Fukushima Medical University; Department of Neurology (H.S., S.K.), Kansai Medical University, Hirakata; Department of Neurology (Y. Nakazawa, R.Y., S.S.), Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka; Department of Neurology (T.S.), Nagano Matsushiro General Hospital; and Department of General Medicine (H.A.), Nagano Matsushiro General Hospital, Japan.
Kagoshima University · JPKyushu University · JPFukushima Medical University · JPIwate Medical University · JPKansai Medical University · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify
methodsErythrocyte membrane proteins from patients with suspected MLS and patients with ChAc, ChAc mutant carriers, and normal controls were analyzed by XK and chorein immunoblotting. We performed mutation analysis and XK immunoblotting to molecularly diagnose the patients with suspected MLS. Lysates of cultured cells were co-immunoprecipitated with anti-XK and anti-chorein antibodies.
resultsAll suspected MLS cases were molecularly diagnosed with MLS, and novel mutations were identified. The average onset age was 46.8 ± 8 years, which was older than that of the patients with ChAc. The immunoblot analysis revealed remarkably reduced chorein immunoreactivity in all patients with MLS. The immunoprecipitation analysis indicated a direct or indirect chorein-XK interaction.
conclusionsIn this study,
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