Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A

Autor: Akshata A Almad, Luis Garcia, Asako Takanohashi, Alyssa Gagne, Wenli Yang, Jean Ann McGuire, Deborah French, Adeline Vanderver

Publikováno v: Stem Cell Research, Vol 69, Iss , Pp 103083- (2023)

Mutations in tubulin alpha 4a (TUBB4A) result in a spectrum of leukodystrophies, including Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC), resulting from a recurring mutation p.Asp249Asn (TUBB4AD249N). H-ABC presents with dyston

Externí odkaz: https://doaj.org/article/4648d8f1fb194af09169591eaa585419

Cx43 hemichannels contribute to astrocyte-mediated toxicity in sporadic and familial ALS

Autor: Akshata A. Almad, Arens Taga, Jessica Joseph, Sarah K. Gross, Connor Welsh, Aneesh Patankar, Jean-Philippe Richard, Khalil Rust, Aayush Pokharel, Caroline Plott, Mauricio Lillo, Raha Dastgheyb, Kevin Eggan, Norman Haughey, Jorge E. Contreras, Nicholas J. Maragakis

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, vol 119, iss 13

Connexin 43 (Cx43) gap junctions and hemichannels mediate astrocyte intercellular communication in the central nervous system under normal conditions and contribute to astrocyte-mediated neurotoxicity in amyotrophic lateral sclerosis (ALS). Here, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b3c202d3e4386999bd02abedd682e07
https://doi.org/10.1073/pnas.2107391119

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.

Autor: Helman G; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia., Zerem A; Pediatric Neurology Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel., Almad A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Hacker JL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Sase S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., LeFevre AN; University of Maryland Brain and Tissue Bank, Baltimore, Maryland., Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York., Johansson MM; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York., Stutterd CA; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Taft RJ; Illumina Inc., San Diego, California., Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia., Grinspan JB; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Schmidt JL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Harding B; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York., Viaene AN; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Fattal-Valevski A; Pediatric Neurology Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: vandervera@email.chop.edu.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2021 Aug; Vol. 121, pp. 11-19. Date of Electronic Publication: 2021 May 14.

Perfluorocarbon Labeling of Human Glial-Restricted Progenitors for ¹⁹ F Magnetic Resonance Imaging.

Autor: Richard JP; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Hussain U; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Gross S; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Taga A; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Kouser M; Russell H. Morgan Department of Radiology and Radiological Science, Division of MR Research, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Cellular Imaging Section and Vascular Biology Program, Institute for Cell Engineering, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Almad A; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Campanelli JT; Q Therapeutics, Inc., Salt Lake City, Utah, USA., Bulte JWM; Russell H. Morgan Department of Radiology and Radiological Science, Division of MR Research, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Cellular Imaging Section and Vascular Biology Program, Institute for Cell Engineering, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Maragakis NJ; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Publikováno v: Stem cells translational medicine [Stem Cells Transl Med] 2019 Apr; Vol. 8 (4), pp. 355-365. Date of Electronic Publication: 2019 Jan 07.

Astrocytes, an active player in Aicardi-Goutières syndrome.

Autor: Sase S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Takanohashi A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Almad A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.

Publikováno v: Brain pathology (Zurich, Switzerland) [Brain Pathol] 2018 May; Vol. 28 (3), pp. 399-407.