ArticlemedRxiv : the preprint server for health sciences2025
A novel alpha-synuclein K58N missense variant in a patient with Parkinson's disease.
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In one paragraph
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
1 citing paper in PubMed.
- Genetics of α-Synuclein: The Prime Pathological Player of Parkinson's Disease.Neurotoxicity research · 2026Review
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Authors and funding
25 authors.
Mohammed Al-AzzaniUniversity Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.ORCID 0000-0003-2864-0854
Sandrina WeberDepartment of Neurology, University Medical Center Goettingen, Goettingen, Germany.
Nagendran RamalingamAnn Romney Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United State.
Maria RamónUniversity Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.
Liana ShvachiyUniversity Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.
Gonçalo MestreUniversity Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.
Michael ZechInstitute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Kevin SickingUniversity Medical Center Göttingen, Institute for Neuropathology, Göttingen, 37077 Germany.
Alain Ibáñez de OpakuaGerman Center for Neurodegenerative Diseases (DZNE), Von-Siebold-Str. 3a, 37075 Göttingen, Germany.
Vidyashree JayanthiAnn Romney Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United State.
Leslie AmaralUniversity Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.
Aishwarya AgarwalCambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, The Keith Peters Building, Hills Road, Cambridge, CB2 0XY, UK.
Aswathy ChandranCambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, The Keith Peters Building, Hills Road, Cambridge, CB2 0XY, UK.
Susana R ChavesCBMA - Centre of Molecular and Environmental Biology, School of Sciences, University of Minho, 4710-057 Braga, Portugal.ORCID 0000-0002-6004-9872
Juliane WinkelmannInstitute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Claudia TrenkwalderDepartment of Neurosurgery, University Medical Centre Goettingen, Goettingen, Germany.
Maike SchwagerInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Silke PauliInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Ulf DettmerAnn Romney Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United State.
Claudio O FernándezMax Planck Laboratory for Structural Biology, Chemistry and Molecular Biophysics of Rosario (MPLbioR, UNR-MPINAT), Partner Laboratory of the Max Planck Institute for Multidisciplinary Sciences (MPINAT, MPG). Centro de Estudios Interdisciplinarios, Universidad Nacional de Rosario, Rosario, Argentina.
Janin LautenschlägerCambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, The Keith Peters Building, Hills Road, Cambridge, CB2 0XY, UK.
Markus ZweckstetterGerman Center for Neurodegenerative Diseases (DZNE), Von-Siebold-Str. 3a, 37075 Göttingen, Germany.
Ruben Fernandez BusnadiegoUniversity Medical Center Göttingen, Institute for Neuropathology, Göttingen, 37077 Germany.ORCID 0000-0002-8366-7622
Brit MollenhauerDepartment of Neurology, University Medical Center Goettingen, Goettingen, Germany.
Tiago Fleming OuteiroUniversity Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.
Funding
Elucidating the Biological Differences Between Distinct Fibrillar and Non-Fibrillar Alpha-Synuclein Inclusions in Human Stem-Cell ModelsR01NS109209 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI KHURANA, VIKRAM · 2020 to 2024
$4.5MHow Serine-129 Phosphorylation Status Affects the Spreading of α-Synuclein Pathology in Vivo: a Study in Knock-in AnimalsRF1NS133979 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI DETTMER, ULF, RAMALINGAM, NAGENDRAN · 2023 to 2023
$2.2MPolo-like-kinase-2-dependent α-Synuclein Serine-129 Phosphorylation: a Physiological RoleDuring Synaptic ActivityRF1NS122880 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI DETTMER, ULF, RAMALINGAM, NAGENDRAN · 2022 to 2022
$2.1MStabilizing native α-synuclein homeostasis to prevent insoluble α-synuclein aggregatesR01NS099328 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI DETTMER, ULF · 2017 to 2021
$1.9MPolo-like-kinase-2-dependent α-Synuclein Serine-129 Phosphorylation: a Physiological RoleDuring Synaptic ActivityR01NS122880 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI Ulf Dettmer, Nagendran Ramalingam · 2025 to 2026
$1.4MContrasting pathomechanisms of membrane versus cytosol alpha-synuclein excessR21NS121826 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI DETTMER, ULF · 2021 to 2021
$505kDistinguishing α-Synuclein S129 Phosphorylation in Health and Lewy Body DementiaR21AG085401 · NIA · UNIVERSITY OF SOUTH FLORIDA · PI Nagendran Ramalingam · 2024 to 2026
$433kNIA NIH HHS R21 AG085401NINDS NIH HHS R01 NS099328NINDS NIH HHS R01 NS109209NINDS NIH HHS R01 NS122880NINDS NIH HHS R21 NS121826NINDS NIH HHS RF1 NS122880NINDS NIH HHS RF1 NS133979
Abstract
Mutations and multiplications in the SNCA
Indexed as
Alpha-synucleingeneticsneurodegenerationParkinson’s diseaseprotein aggregation
Identifiers
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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.