Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kai Yu Ma"'
Publikováno v:
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-11 (2021)
Abstract Pathogenic variants in PINK1 cause early-onset Parkinson’s disease. Although many PINK1 variants have been reported, the clinical significance is uncertain for the majority of them. To gain insights into the consequences of PINK1 missense
Externí odkaz:
https://doaj.org/article/1f25a54650f04d3cb574a56e3c1938d2
Publikováno v:
Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-17 (2021)
Abstract Background Mitochondrial dysfunction plays a prominent role in the pathogenesis of Parkinson’s disease (PD), and several genes linked to familial PD, including PINK1 (encoding PTEN-induced putative kinase 1 [PINK1]) and PARK2 (encoding the
Externí odkaz:
https://doaj.org/article/93bd9e0cdc864b45abf04f7c7d22a75a
Autor:
Michele Perni, Annemieke van der Goot, Ryan Limbocker, Tjakko J. van Ham, Francesco A. Aprile, Catherine K. Xu, Patrick Flagmeier, Karen Thijssen, Pietro Sormanni, Giuliana Fusco, Serene W. Chen, Pavan K. Challa, Julius B. Kirkegaard, Romain F. Laine, Kai Yu Ma, Martin B. D. Müller, Tessa Sinnige, Janet R. Kumita, Samuel I. A. Cohen, Renée Seinstra, Gabriele S. Kaminski Schierle, Clemens F. Kaminski, Denise Barbut, Alfonso De Simone, Tuomas P. J. Knowles, Michael Zasloff, Ellen A. A. Nollen, Michele Vendruscolo, Christopher M. Dobson
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
The aggregation of α-synuclein is a hallmark of Parkinson's disease (PD) and a variety of related neurological disorders. A number of mutations in this protein, including A30P and A53T, are associated with familial forms of the disease. Patients car
Externí odkaz:
https://doaj.org/article/40381e7ca771461e9f79bf4da8952019
Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23
Publikováno v:
BRAIN PATHOLOGY, 31(2):12905, 239-252. Wiley-Blackwell
Brain Pathology
Brain Pathology (Zurich, Switzerland)
Brain Pathology, 31, 239-252
Brain Pathology, 31, 2, pp. 239-252
Brain Pathology
Brain Pathology (Zurich, Switzerland)
Brain Pathology, 31, 239-252
Brain Pathology, 31, 2, pp. 239-252
Spinocerebellar ataxia type 23 (SCA23) is a late‐onset neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, for which there is no therapy available. It is caused by pathogenic variants in PDYN, which encodes prodynor
Autor:
Marlous C M van der Weijden, Dineke S. Verbeek, Michelle L Kielhold, John T. Williams, Kai Yu Ma, Kim A. Neve, Dayana Rodriguez-Contreras, Alec F. Condon, Claudia Dufke, Cathérine C.S. Delnooz, Brooks G. Robinson, Gilles N. Stormezand, Marina A. J. Tijssen
Publikováno v:
Movement Disorders, 36(3), 729-739. Wiley
Movement Disorders
Movement Disorders
Background We describe a 4-generation Dutch pedigree with a unique dominantly inherited clinical phenotype of a combined progressive chorea and cervical dystonia carrying a novel heterozygous dopamine D2 receptor (DRD2) variant. Objectives The object
Publikováno v:
Translational Neurodegeneration
Translational neurodegeneration, 10(1):19. BMC
Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-17 (2021)
Translational neurodegeneration, 10(1):19. BMC
Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-17 (2021)
Background Mitochondrial dysfunction plays a prominent role in the pathogenesis of Parkinson’s disease (PD), and several genes linked to familial PD, including PINK1 (encoding PTEN-induced putative kinase 1 [PINK1]) and PARK2 (encoding the E3 ubiqu
Autor:
Amanda J. Haack, Peter Gaida, Tessa Sinnige, Michele Vendruscolo, Nathan Curry, Kai Yu Ma, Clemens F. Kaminski, Romain F. Laine, Michele Perni, Christopher M. Dobson, Chetan Poudel, Gabriele S. Kaminski Schierle, Ellen A. A. Nollen
Publikováno v:
ACS Chem Biol
ACS Chemical Biology
ACS chemical biology, 14(7), 1628-1636. AMER CHEMICAL SOC
ACS Chemical Biology
ACS chemical biology, 14(7), 1628-1636. AMER CHEMICAL SOC
The nematode worm Caenorhabditis elegans has emerged as an important model organism to study the molecular mechanisms of protein misfolding diseases associated with amyloid formation because of its small size, ease of genetic manipulation and optical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b08c9aeb079f22e82b3e9604b7fca3d
https://doi.org/10.1101/414714
https://doi.org/10.1101/414714
Autor:
Alexander Dömling, Kai Yu Ma, Sergey Lunev, Marije F W Semmelink, Matthew Groves, Jia Ling Xian, Anna J A Leenders, Michael Shtutman
Publikováno v:
Acta Crystallographica Section F: Structural Biology Communications, 73(Pt 1), 1-8. INT UNION CRYSTALLOGRAPHY
The majority of modern anticancer approaches target DNA/protein targets involved in tumour-cell proliferation. Such approaches have a major drawback, as nonproliferating cancer cells remain unaffected and may cause relapse or remission. Human coatome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f183a69993cb6095a313f0fcb22c98b9
https://research.rug.nl/en/publications/ad536594-3146-4a96-9118-75ffce05bfe4
https://research.rug.nl/en/publications/ad536594-3146-4a96-9118-75ffce05bfe4
Autor:
Dineke S. Verbeek, Kai Yu Ma
Publikováno v:
Brain, 141:79. Oxford University Press
Autor:
Kai Yu Ma, Amanda J. Haack, Peter Gaida, Romain F. Laine, Christopher M. Dobson, Nathan Curry, Michele Vendruscolo, Ellen A. A. Nollen, Michele Perni, Gabriele S. Kaminski Schierle, Tessa Sinnige, Clemens F. Kaminski
Publikováno v:
Biophysical Journal, 114(3). CELL PRESS