Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Dwight Koeberl"'
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)
Abstract Propionic acidemia (PA), resulting from Pcca or Pccb gene mutations, impairs propionyl-CoA metabolism and induces metabolic alterations. While speculation exists that fasting might exacerbate metabolic crises in PA patients by accelerating t
Externí odkaz:
https://doaj.org/article/a084eb9e01ac4aff8eabb0b19e4fc091
Autor:
Devon Noonan, Wendy K. K. Lam, James Goodrich, Sydney Sullivan, Keisha Bentley‐Edwards, Dwight Koeberl, Anushka Palipana, F. Joseph McClernon
Publikováno v:
Clinical and Translational Science, Vol 17, Iss 8, Pp n/a-n/a (2024)
Abstract Prior research highlights that rural populations have been historically underrepresented/excluded from clinical research. The primary objective of this study was to describe the inclusion of rural populations within our research enterprise u
Externí odkaz:
https://doaj.org/article/7c7798aef98e416f93252511db9076af
Autor:
Monika Williams, Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert, Dwight Koeberl, Sarah P. Young, Ashlee R. Stiles
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101062- (2024)
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by biallelic pathogenic variants in HMGCS2. Clinical symptoms are precipitated by prolonged fasting an
Externí odkaz:
https://doaj.org/article/9318d626e74e4516b096a145643dc2c0
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101013- (2023)
Externí odkaz:
https://doaj.org/article/7478f096bc7c42d689df92b257b8df3b
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101001- (2023)
Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 an
Externí odkaz:
https://doaj.org/article/f3fb51c11aca47f49c9ed8fa1ae4f882
Autor:
Sang-oh Han, Giuseppe Ronzitti, Benjamin Arnson, Christian Leborgne, Songtao Li, Federico Mingozzi, Dwight Koeberl
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 4, Iss C, Pp 126-136 (2017)
Pompe disease results from acid α-glucosidase (GAA) deficiency, and enzyme replacement therapy (ERT) with recombinant human (rh) GAA has clinical benefits, although its limitations include the short half-life of GAA and the formation of antibody res
Externí odkaz:
https://doaj.org/article/9139c3ce594942769f879f7b29b34fed
Autor:
Sang-oh Han, Dorothy Gheorghiu, Alex Chang, Sweet Hope Mapatano, Songtao Li, Elizabeth Brooks, Dwight Koeberl
Publikováno v:
Hum Gene Ther
Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid α-glucosidase (GAA), resulting in skeletal muscle weakness and cardiomyopathy that progresses despite currently available therapy in some patients. The d
Autor:
Parith Wongkittichote, Tae‐Ik Choi, Oc‐Hee Kim, Kacie Riley, Dwight Koeberl, Vinodh Narayanan, Keri Ramsey, Chris Balak, Charles E. Schwartz, Anna Maria Cueto‐Gonzalez, Francina Munell Casadesus, Cheol‐Hee Kim, Marwan S. Shinawi
Publikováno v:
Clinical geneticsREFERENCES.
ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been a
Autor:
Bernd C. Schwahn, Gerard T. Berry, Saikat Santra, Hilary Vernon, Hong Li, J. Lawrence Merritt, Manuel Schiff, Brigitte Chabrol, Javier De las Heras, Jerry Vockley, Chung Lee, Dwight Koeberl, Barbara Burton, Stephanie Grunewald, Thomas Morgan, George Diaz, Can Ficicioglu, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo
Publikováno v:
Molecular Genetics and Metabolism. 138:107476
Autor:
Manuel Schiff, Bernd C. Schwahn, Brigitte Chabrol, J. Lawrence Merritt, Jerry Vockley, Hilary Vernon, Gerard T. Berry, Saikat Santra, Chung Lee, Dwight Koeberl, Hong Li, Barbara Burton, Javier De las Heras, George Diaz, Mariana Faria-Urbina, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo
Publikováno v:
Molecular Genetics and Metabolism. 138:107475