Results 41 to 50 of about 16,484,276 (296)

Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease. [PDF]

Neurol Genet, 2021
Background and Objective Alexander disease (ALXDRD) is an autosomal dominant neurologic disorder caused by mutations in the glial fibrillary acidic protein (GFAP) gene and is pathologically defined by Rosenthal fiber accumulation.
Amano E, Yoshida T, Mizuta I, Oyama J, Sakashita S, Ueyama S, Machida A, Yokota T.   +7 more
europepmc   +2 more sources

Pexidartinib treatment in Alexander disease model mice reduces macrophage numbers and increases glial fibrillary acidic protein levels, yet has minimal impact on other disease phenotypes

Journal of Neuroinflammation, 2021
Alexander disease (AxD) is a rare neurodegenerative disorder that is caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament that is primarily expressed by astrocytes.
M. M. Boyd, Suzanne J. Litscher, Laura L Seitz, A. Messing, Tracy L. Hagemann, Lara S. Collier   +5 more
semanticscholar   +1 more source

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation

Frontiers in Genetics, 2021
Alexander disease is a leukodystrophy caused by heterozygous mutations of GFAP gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism.
Alice Grossi, Federico Morelli, Marco Di Duca, Francesco Caroli, Isabella Moroni, Davide Tonduti, Tiziana Bachetti, Tiziana Bachetti, Isabella Ceccherini   +8 more
doaj   +1 more source

Alexander the Great: Head to Head with CTE (Chronic Traumatic Encephalopathy) [PDF]

Athens Journal of History, 2017
One of history’s lingering questions involves the dramatic personality and behavior changes of Alexander the Great. How did a man who was regarded as intelligent, charismatic, compassionate, judicious and composed become increasingly irrational, paranoid,
Alexandra F. Morris
doaj   +1 more source

HDAC inhibitors Panobinostat and Romidepsin enhance tax transcription in HTLV-1-infected cell lines and freshly isolated patients’ T-cells

Frontiers in Immunology, 2022
The viral transactivator Tax plays a key role in HTLV-1 reactivation and de novo infection. Previous approaches focused on the histone deacetylase inhibitor (HDACi) Valproate as a latency-reversing agent to boost Tax expression and expose infected cells ...
Annika P. Schnell, Stephan Kohrt, Aris Aristodemou, Graham P. Taylor, Charles R. M. Bangham, Andrea K. Thoma-Kress   +5 more
doaj   +1 more source

Alexander Disease Without White Matter Lesions

Pediatric Neurology Briefs, 2006
Seven patients with atypical Alexander disease, showing signs of medulla and spinal cord involvement and little evidence of leukoencephalopathy, are reported from University Medical Center, Amsterdam, the Netherlands; and centers in the UK, USA, Canada ...
J Gordon Millichap
doaj   +1 more source

Association between cognitive performance and cortical glucose metabolism in patients with mild Alzheimer's disease [PDF]

, 2005
Background: Neuronal and synaptic function in Alzheimer's disease (AD) is measured in vivo by glucose metabolism using positron emission tomography (PET). Objective: We hypothesized that neuronal activation as measured by PET is a more sensitive index of
A. Drzezga, A.L.W. Bokde, Baron JC, C. Born, Collins DL, G. Leinsinger, H. Hampel, H.-J. Moeller, Herholz K, Herscovitch P, Ibanez V, Ishii K, J. Thissen, Jueptner M, M. Schwaiger, McKhann G, Meltzer CC, Meltzer CC, Mentis MJ, Mentis MJ, P. Bartenstein, Pietrini P, Pietrini P, Pietrini P, Rapoport SI, S.J. Teipel, Sokoloff L, W. Dong   +27 more
core   +1 more source

Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease. [PDF]

PLoS ONE, 2015
Alexander disease is a fatal neurodegenerative disease caused by mutations in the astrocyte intermediate filament glial fibrillary acidic protein (GFAP).
Christine M LaPash Daniels, Elizabeth Paffenroth, Elizabeth V Austin, Konstantin Glebov, Diana Lewis, Jochen Walter, Albee Messing   +6 more
doaj   +1 more source

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease

Molecular Medicine Reports, 2021
Alexander disease (AxD) is a cerebral white matter disease affecting a wide range of ages, from infants to adults. In the present study, two cases of bulbospinal form AxD were reported, and a preliminary exploration of AxD was conducted thorough clinical,
Xiao-xuan Song, Jingwen Jiang, Wotu Tian, Fei-xia Zhan, Zeyu Zhu, Binyin Li, Hui-dong Tang, Li Cao   +7 more
semanticscholar   +1 more source

Glial Protein Mutations in Alexander Disease

Pediatric Neurology Briefs, 2005
The role of glial fibrillary acidic protein (GFAP) mutations in Alexander disease was analyzed in 44 patients, including 18 with later onset, at the University of Alabama, Birmingham, AL, and at other centers in the US, UK and Europe.
J Gordon Millichap
doaj   +1 more source