Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Akshata Almad"'
Autor:
Luis Garcia, Carlos Dominguez Gonzalez, Alyssa Gagne, Jean Ann McGuire, Deborah French, Asako Takanohashi, Akshata Almad, Adeline Vanderver, Sunetra Sase
Publikováno v:
Stem Cell Research, Vol 74, Iss , Pp 103299- (2024)
Mutations in Adenosine deaminase acting on RNA 1 (ADAR1) gene encoding RNA editing enzyme ADAR1 results in the neuroinflammatory leukodystrophy Aicardi Goutières Syndrome (AGS). AGS is an early onset leukoencephalopathy with an exacerbated interfero
Externí odkaz:
https://doaj.org/article/eec5d893a101494a861c1416b7740160
Publikováno v:
Neurobiology of Disease, Vol 146, Iss , Pp 105087- (2020)
Glia cells are often viewed as support cells in the central nervous system, but recent discoveries highlight their importance in physiological functions and in neurological diseases. Central to this are leukodystrophies, a group of progressive, neuro
Externí odkaz:
https://doaj.org/article/7ae4d0d8f2044d848d8bcfb8b87d4c88
Autor:
James T. Campanelli, Jean Philippe Richard, Akshata Almad, Mehreen Kouser, Nicholas J. Maragakis, Jeff W.M. Bulte, Uzma Hussain, Sarah K. Gross, Arens Taga
Publikováno v:
Stem Cells Translational Medicine
One of the fundamental limitations in assessing potential efficacy in Central Nervous System (CNS) transplantation of stem cells is the capacity for monitoring cell survival and migration noninvasively and longitudinally. Human glial-restricted proge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::834fd9d27edfc601468c611d04a2853d
http://europepmc.org/articles/PMC6431733
http://europepmc.org/articles/PMC6431733
Autor:
Angela N. Viaene, Aviva Fattal-Valevski, Martin Johansson, Alexandra N. LeFevre, Adeline Vanderver, Judith B. Grinspan, Johanna L. Schmidt, Sunetra Sase, Guy Helman, Brian Harding, Chloe A Stutterd, Ryan J. Taft, Yoel Hirsch, Sarah Woidill, Josef Ekstein, Akshata Almad, Amy Pizzino, Cas Simons, Julia L. Hacker, Ayelet Zerem
Publikováno v:
Pediatr Neurol
Background A recurrent homozygous missense variant, c.160G>C;p.(Val54Leu) in HIKESHI, was found to cause a hypomyelinating leukodystrophy with high frequency in the Ashkenazi Jewish population. We provide extended phenotypic classification of this di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24243dc8186f4c232c248039555708ad
https://europepmc.org/articles/PMC8327280/
https://europepmc.org/articles/PMC8327280/
Autor:
C Alexander Boecker, Sunetra Sase, Erika L.F. Holzbaur, Divya Sirdeshpande, Jian J. Li, Akshilkumar Patel, Heta Patel, Quasar S Padiath, Julian Curiel, Pedro Guedes-Dias, Tara McCaffrey, Judy S. Liu, Akshata Almad, Steven S. Scherer, Asako Takanohashi, Adeline Vanderver
Publikováno v:
eLife
eLife, Vol 9 (2020)
eLife, Vol 9 (2020)
Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N). We have d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2473c3e6ca616ca338786df5ca312e
http://europepmc.org/articles/PMC7255805
http://europepmc.org/articles/PMC7255805
Autor:
Adeline Vanderver, Tara McCaffrey, Jian J. Li, Sunetra Sase, Heta Patel, Julian Curiel, Erika L.F. Holzbaur, Divya Sirdeshpande, C Alexander Boecker, Akshilkumar Patel, Quasar S Padiath, Judy S. Liu, Asako Takanohashi, Steven S. Scherer, Pedro Guedes-Dias, Akshata Almad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df5f0d907c123d05e4e404e8bc8f789a
https://doi.org/10.7554/elife.52986.sa2
https://doi.org/10.7554/elife.52986.sa2
Autor:
Norman J. Haughey, Aayush Pokharel, Raha Dastgheyb, Jean Philippe Richard, Jessica Joseph, Akshata Almad, Aneesh Patankar, Arens Taga, Kevin Eggan, Sarah K. Gross, Jorge E. Contreras, Mauricio A. Lillo, Connor Welsh, Nicholas J. Maragakis
Connexin 43 (Cx43) gap junctions and hemichannels mediate astrocyte intercellular communication in the central nervous system under normal conditions and may contribute to astrocyte-mediated neurotoxicity in amyotrophic lateral sclerosis (ALS). Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::315591590e32889d4647a242f1641f94
https://doi.org/10.1101/2020.03.14.990747
https://doi.org/10.1101/2020.03.14.990747
Publikováno v:
Brain Pathology. 28:399-407
Aicardi-Goutieres syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neurologic injury. Molecular studies have established that autosomal recessive mutations in one of the following genes are causative: TR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7508d43241e433c0f2f780af5fa234c1
https://doi.org/10.1111/bpa.12600
https://doi.org/10.1111/bpa.12600
Autor:
Akshata Almad, Amit K. Srivastava, Nicholas J. Maragakis, Jeff W.M. Bulte, Camille A. Bulte, Sarah K. Gross
Publikováno v:
Experimental Neurology. 289:96-102
Neural stem cells (NSCs) are being investigated as a possible treatment for amyotrophic lateral sclerosis (ALS) through intraspinal transplantation, but no longitudinal imaging studies exist that describe the survival of engrafted cells over time. Al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b9973cae64bbe60d65b3f4c363d146
https://doi.org/10.1016/j.expneurol.2016.12.011
https://doi.org/10.1016/j.expneurol.2016.12.011
Publikováno v:
Neurobiology of Disease, Vol 146, Iss, Pp 105087-(2020)
Glia cells are often viewed as support cells in the central nervous system, but recent discoveries highlight their importance in physiological functions and in neurological diseases. Central to this are leukodystrophies, a group of progressive, neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f685ba4a362020fb3b277e18833c988
https://doi.org/10.1016/j.nbd.2020.105087
https://doi.org/10.1016/j.nbd.2020.105087