Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Monica Castanedes‐Casey"'
Autor:
Shunsuke Koga, Aya Murakami, Alexandra I. Soto-Beasley, Ronald L. Walton, Matthew C. Baker, Monica Castanedes-Casey, Keith A. Josephs, Owen A. Ross, Dennis W. Dickson
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-9 (2023)
Abstract Frontotemporal lobar degeneration (FTLD) is a group of disorders characterized by degeneration of the frontal and temporal lobes, leading to progressive decline in language, behavior, and motor function. FTLD can be further subdivided into t
Externí odkaz:
https://doaj.org/article/ac89a41380b2423b8c85b9f8a0592b72
Autor:
Jinyoung Park, Yanwei Wu, Wei Shao, Tania F. Gendron, Sophie J.F. van der Spek, Grigorii Sultanakhmetov, Avik Basu, Paula Castellanos Otero, Caroline J. Jones, Karen Jansen-West, Lillian M. Daughrity, Sadhna Phanse, Giulia del Rosso, Jimei Tong, Monica Castanedes-Casey, Lulu Jiang, Jenna Libera, Björn Oskarsson, Dennis W. Dickson, David W. Sanders, Clifford P. Brangwynne, Andrew Emili, Benjamin Wolozin, Leonard Petrucelli, Yong-Jie Zhang
Publikováno v:
Cell Reports, Vol 42, Iss 8, Pp 112822- (2023)
Summary: C9orf72 repeat expansions are the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Poly(GR) proteins are toxic to neurons by forming cytoplasmic inclusions that sequester RNA-binding protein
Externí odkaz:
https://doaj.org/article/b8020317518447719952eee97c008bca
Autor:
Diego Iacono, Shunsuke Koga, Hui Peng, Arulmani Manavalan, Jessica Daiker, Monica Castanedes-Casey, Nicholas B. Martin, Aimee R. Herdt, Michael H. Gelb, Dennis W. Dickson, Chris W. Lee
Publikováno v:
Neurobiology of Disease, Vol 174, Iss , Pp 105862- (2022)
Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase (GALC). Functional deficiency of GALC is toxic to myelin-producing cells, which
Externí odkaz:
https://doaj.org/article/d4cc186bc60040409a03f88f4dcd82c3
Autor:
Shunsuke Koga, Aya Murakami, Alexandra I. Soto-Beasley, Ronald L. Walton, Matthew C. Baker, Monica Castanedes-Casey, Keith A. Josephs, Owen A. Ross, Dennis W. Dickson
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/22aa5abb71504c85ae64ae258edf3eac
Autor:
Karen Jansen-West, Tiffany W. Todd, Lillian M. Daughrity, Mei Yue, Jimei Tong, Yari Carlomagno, Giulia Del Rosso, Aishe Kurti, Caroline Y. Jones, Judith A. Dunmore, Monica Castanedes-Casey, Dennis W. Dickson, Zbigniew K. Wszolek, John D. Fryer, Leonard Petrucelli, Mercedes Prudencio
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited cerebellar ataxia caused by the expansion of a polyglutamine (polyQ) repeat in the gene encoding ATXN3. The polyQ expansion induces protein inclusion formation in the neurons of patients
Externí odkaz:
https://doaj.org/article/93c536b37c164026a09cc9898bc89801
Autor:
Giulia del Rosso, Yari Carlomagno, Tiffany W. Todd, Caroline Y. Jones, Mercedes Prudencio, Lillian M. Daughrity, Mei Yue, Karen Jansen-West, Jimei Tong, Wei Shao, Yanwei Wu, Monica Castanedes-Casey, Lilia Tabassian, Björn Oskarsson, Karen Ling, Frank Rigo, Dennis W. Dickson, Tso-Pang Yao, Leonard Petrucelli, Casey N. Cook, Yong Jie Zhang
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2022)
The aberrant translation of a repeat expansion in chromosome 9 open reading frame 72 (C9orf72), the most common cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), results in the accumulation of toxic dipeptide repeat (DPR
Externí odkaz:
https://doaj.org/article/82dcc1ca691c4a8c903043790d6753ad
Autor:
Yanwei Wu, Wei Shao, Tiffany W. Todd, Jimei Tong, Mei Yue, Shunsuke Koga, Monica Castanedes-Casey, Ariston L. Librero, Chris W. Lee, Ian R. Mackenzie, Dennis W. Dickson, Yong-Jie Zhang, Leonard Petrucelli, Mercedes Prudencio
Publikováno v:
Cell Reports, Vol 36, Iss 8, Pp 109581- (2021)
Summary: Loss-of-function mutations in the progranulin gene (GRN), which encodes progranulin (PGRN), are a major cause of frontotemporal dementia (FTD). GRN-associated FTD is characterized by TDP-43 inclusions and neuroinflammation, but how PGRN loss
Externí odkaz:
https://doaj.org/article/3f8cecd7c2684fee95aea210a86e2903
Autor:
Dah-eun Chloe Chung, Yari Carlomagno, Casey N. Cook, Karen Jansen-West, Lillian Daughrity, Laura J. Lewis-Tuffin, Monica Castanedes-Casey, Michael DeTure, Dennis W. Dickson, Leonard Petrucelli
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-12 (2019)
Abstract Tauopathies are neurodegenerative disorders characterized by aggregation of microtubule associated tau protein in neurons and glia. They are clinically and pathologically heterogeneous depending on the isoform of tau protein that accumulates
Externí odkaz:
https://doaj.org/article/76089d87ed404a068675109efa344743
Autor:
Jeannie Chew, Casey Cook, Tania F. Gendron, Karen Jansen-West, Giulia del Rosso, Lillian M. Daughrity, Monica Castanedes-Casey, Aishe Kurti, Jeannette N. Stankowski, Matthew D. Disney, Jeffrey D. Rothstein, Dennis W. Dickson, John D. Fryer, Yong-Jie Zhang, Leonard Petrucelli
Publikováno v:
Molecular Neurodegeneration, Vol 14, Iss 1, Pp 1-15 (2019)
Abstract Background A G4C2 hexanucleotide repeat expansion in the noncoding region of C9orf72 is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). Putative disease mechanisms underlying c9FTD/ALS includ
Externí odkaz:
https://doaj.org/article/3004e4a0bfbf435c8645609120c61a22
Autor:
Yari Carlomagno, Dah-eun Chloe Chung, Mei Yue, Aishe Kurti, Nicole M. Avendano, Monica Castanedes-Casey, Kelly M. Hinkle, Karen Jansen-West, Lillian M. Daughrity, Jimei Tong, Virginia Phillips, Rosa Rademakers, Michael DeTure, John D. Fryer, Dennis W. Dickson, Leonard Petrucelli, Casey Cook
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-13 (2019)
Abstract Pathogenic mutations in the tau gene (microtubule associated protein tau, MAPT) are linked to the onset of tauopathy, but the A152T variant is unique in acting as a risk factor for a range of disorders including Alzheimer’s disease (AD), p
Externí odkaz:
https://doaj.org/article/01ef1476c69f420aa2d92a6235cfe2dd