Zobrazeno 1 - 10
of 1 112
pro vyhledávání: '"A Mackay-Sim"'
Autor:
Hannah C. Leeson, Julio Aguado, Cecilia Gómez-Inclán, Harman Kaur Chaggar, Atefah Taherian Fard, Zoe Hunter, Martin F. Lavin, Alan Mackay-Sim, Ernst J. Wolvetang
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106562- (2024)
Ataxia Telangiectasia (AT) is a rare disorder caused by mutations in the ATM gene and results in progressive neurodegeneration for reasons that remain poorly understood. In addition to its central role in nuclear DNA repair, ATM operates outside the
Externí odkaz:
https://doaj.org/article/b826d148b82f43529a6250e191ea9f40
Autor:
M Murtaza, J Shan, N Matigian, M Todorovic, A L Cook, S Ravishankar, L F Dong, J Neuzil, P Silburn, A Mackay-Sim, G D Mellick, S A Wood
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0154544 (2016)
Parkinson's disease is a complex age-related neurodegenerative disorder. Approximately 90% of Parkinson's disease cases are idiopathic, of unknown origin. The aetiology of Parkinson's disease is not fully understood but increasing evidence implies a
Externí odkaz:
https://doaj.org/article/e452e672977e4487874e5b8680c84e87
Autor:
Leeson, Hannah C., Aguado, Julio, Gómez-Inclán, Cecilia, Chaggar, Harman Kaur, Fard, Atefah Taherian, Hunter, Zoe, Lavin, Martin F., Mackay-Sim, Alan, Wolvetang, Ernst J.
Publikováno v:
In Neurobiology of Disease September 2024 199
Autor:
Gautam Wali, Sue-Faye Siow, Erandhi Liyanage, Kishore R. Kumar, Alan Mackay-Sim, Carolyn M. Sue
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
HSP-SPAST is the most common form of hereditary spastic paraplegia (HSP), a neurodegenerative disease causing lower limb spasticity. Previous studies using HSP-SPAST patient-derived induced pluripotent stem cell cortical neurons have shown that patie
Externí odkaz:
https://doaj.org/article/3201b17da6cb45dfba36c4145e81a41f
Autor:
Hannah C. Leeson, Zoe Hunter, Harman Kaur Chaggar, Martin F. Lavin, Alan Mackay-Sim, Ernst J. Wolvetang
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102528- (2021)
Ataxia Telangiectasia is a rare autosomal recessive disorder caused by a mutated ATM gene. The most debilitating symptom of Ataxia Telangiectasia is the progressive neurodegeneration of the cerebellum, though the molecular mechanisms driving this deg
Externí odkaz:
https://doaj.org/article/6699cf1e6cf540f2a7dc0930af1fb9f5
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102527- (2021)
Human olfactory neurosphere-derived (ONS) cells are derived from the olfactory mucosa and display some progenitor- and neuronal cell-like properties, making them useful models of neurological disorders. However, they lack several important characteri
Externí odkaz:
https://doaj.org/article/07a5ee483695411d9f54c69fe99f6a7c
Autor:
Laura M. Rantanen, Maina Bitar, Riikka Lampinen, Romal Stewart, Hazel Quek, Lotta E. Oikari, Carla Cunί-Lόpez, Ratneswary Sutharsan, Gayathri Thillaiyampalam, Jamila Iqbal, Daniel Russell, Elina Penttilä, Heikki Löppönen, Juha-Matti Lehtola, Toni Saari, Sanna Hannonen, Anne M. Koivisto, Larisa M. Haupt, Alan Mackay-Sim, Alexandre S. Cristino, Katja M. Kanninen, Anthony R. White
Publikováno v:
Cells, Vol 11, Iss 20, p 3258 (2022)
An early symptom of Alzheimer’s disease (AD) is an impaired sense of smell, for which the molecular basis remains elusive. Here, we generated human olfactory neurosphere-derived (ONS) cells from people with AD and mild cognitive impairment (MCI), a
Externí odkaz:
https://doaj.org/article/dca05e7e61d14b3aa34487459c0f0668
Autor:
Frances Theunissen, Ryan S. Anderton, Frank L. Mastaglia, Loren L. Flynn, Samantha J. Winter, Ian James, Richard Bedlack, Stuart Hodgetts, Sue Fletcher, Steve D. Wilton, Nigel G. Laing, Mandi MacShane, Merrilee Needham, Ann Saunders, Alan Mackay-Sim, Ze’ev Melamed, John Ravits, Don W. Cleveland, P. Anthony Akkari
Publikováno v:
Frontiers in Aging Neuroscience, Vol 13 (2021)
ObjectiveThere is a critical need to establish genetic markers that explain the complex phenotypes and pathogenicity of ALS. This study identified a polymorphism in the Stathmin-2 gene and investigated its association with sporadic ALS (sALS) disease
Externí odkaz:
https://doaj.org/article/906c5968a4af4854868be264d12ff5cc
Autor:
Kishore R. Kumar, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer, Velimir Gayevskiy, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. Sue
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 46-51 (2018)
Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, an important regulator of peroxisome biogenesis. Using whole genome sequencing, we detected previously unreported, biallelic
Externí odkaz:
https://doaj.org/article/200e2d28977c4ba3868988de70ca5ca7
Autor:
Jing Yang Tee, Alan Mackay-Sim
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 17, p 9177 (2021)
Cell migration is critical for brain development and linked to several neurodevelopmental disorders, including schizophrenia. We have shown previously that cell migration is dysregulated in olfactory neural stem cells from people with schizophrenia.
Externí odkaz:
https://doaj.org/article/04457487aa574561aff0ad040cf8b416