Results 11 to 20 of about 16,484,276 (296)

Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress

Redox Biology, 2022
Alexander disease is a fatal neurological disorder caused by mutations in the intermediate filament protein Glial Fibrillary Acidic Protein (GFAP), which is key for astrocyte homeostasis.
Álvaro Viedma-Poyatos, Patricia González-Jiménez, María A. Pajares, Dolores Pérez-Sala   +3 more
doaj   +2 more sources

A case report of adult-onset Alexander disease clinically presenting as Parkinson’s disease: is the comorbidity associated with genetic susceptibility?

BMC Neurology, 2020
Background Alexander disease is a rare neurological disease characterized by progressive spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset Alexander disease were often misdiagnosed as other neurodegenerative disorders ...
Jongkyu Park, Sung-Tae Park, Jieun Kim, Kyum-Yil Kwon   +3 more
doaj   +2 more sources

Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease

Nature Communications, 2018
Alexander disease is a rare neurodegeneration caused by mutations in a glial gene GFAP. Here, Wang and colleagues show in animal models of Alexander disease that GFAP mutant brain and cells have greater tissue and cellular stiffness and greater ...
Liqun Wang, Jing Xia, Jonathan Li, Tracy L. Hagemann, Jeffrey R. Jones, Ernest Fraenkel, David A. Weitz, Su-Chun Zhang, Albee Messing, Mel B. Feany   +9 more
doaj   +2 more sources

Myelin changes in Alexander disease

Neurología (English Edition), 2018
Introduction: Alexander disease (AxD) is a type of leukodystrophy. Its pathological basis, along with myelin loss, is the appearance of Rosenthal bodies, which are cytoplasmic inclusions in astrocytes.
U. Gómez-Pinedo, M. Duran-Moreno, S. Sirerol-Piquer, J. Matias-Guiu   +3 more
doaj   +3 more sources

STAT3 Drives GFAP Accumulation and Astrocyte Pathology in a Mouse Model of Alexander Disease. [PDF]

Cells, 2023
Alexander disease (AxD) is caused by mutations in the gene for glial fibrillary acidic protein (GFAP), an intermediate filament expressed by astrocytes in the central nervous system.
Hagemann TL, Coyne S, Levin A, Wang L, Feany MB, Messing A.   +5 more
europepmc   +2 more sources

Older adult-onset Alexander disease with atypical clinicoradiological features: a case report. [PDF]

Front Neurol, 2023
Alexander disease (AxD) is a rare autosomal dominant astrogliopathy caused by mutations in the gene encoding for glial fibrillary acidic protein. AxD is divided into two clinical subtypes: type I and type II AxD. Type II AxD usually manifests bulbospinal
Kang YR, Nam TS, Kim JM, Kang KW, Lee SH, Choi SM, Kim MK.   +6 more
europepmc   +2 more sources

A systematic review and meta-analysis of GFAP gene variants in Alexander disease. [PDF]

Sci Rep
Alexander disease (ALXDRD) is a rare neurodegenerative disorder of astrocytes resulting from pathogenic variants in the GFAP gene. The genotype-phenotype correlation remains elusive due to the variable expressivity of clinical manifestations.
Grossi A, Rosamilia F, Carestiato S, Salsano E, Ceccherini I, Bachetti T.   +5 more
europepmc   +2 more sources

Refining the concept of GFAP toxicity in Alexander disease

Journal of Neurodevelopmental Disorders, 2019
Background Alexander disease is caused by dominantly acting mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes in the central nervous system.
Albee Messing
doaj   +2 more sources

Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease. [PDF]

Glia
Alexander disease (AxD) is a rare and severe neurodegenerative disorder caused by mutations in glial fibrillary acidic protein (GFAP). While the exact disease mechanism remains unknown, previous studies suggest that mutant GFAP influences many cellular ...
Matusova Z, Dykstra W, de Pablo Y, Zetterdahl OG, Canals I, van Gelder CAGH, Vos HR, Pérez-Sala D, Kubista M, Abaffy P, Ahlenius H, Valihrach L, Hol EM, Pekny M.   +13 more
europepmc   +2 more sources

Juvenile Alexander Disease: A Rare Leukodystrophy. [PDF]

Cureus, 2022
Alexander disease is an uncommon autosomal dominant leukodystrophy that influences the white matter of the central nervous system (CNS), predominantly affecting the frontal lobe bilaterally.
Ullah R, Wazir MH, Gul A, Gul F, Arshad A.   +4 more
europepmc   +2 more sources