Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Nathan P Achilly"'
Autor:
Nathan P Achilly, Ling-jie He, Olivia A Kim, Shogo Ohmae, Gregory J Wojaczynski, Tao Lin, Roy V Sillitoe, Javier F Medina, Huda Y Zoghbi
Publikováno v:
eLife, Vol 10 (2021)
Rett syndrome is a devastating childhood neurological disorder caused by mutations in MECP2. Of the many symptoms, motor deterioration is a significant problem for patients. In mice, deleting Mecp2 from the cortex or basal ganglia causes motor dysfun
Externí odkaz:
https://doaj.org/article/d3b24f10375f4471b540a38aeb3943f0
Publikováno v:
Nature. 592:596-600
Mutations in the X-linked gene MECP2 cause Rett syndrome, a progressive neurological disorder in which children develop normally for the first one or two years of life before experiencing profound motor and cognitive decline1–3. At present there ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23db2d8675eec5c223d19d0d9e16275b
https://doi.org/10.1038/s41586-021-03369-7
https://doi.org/10.1038/s41586-021-03369-7
Autor:
Tao Lin, Olivia A. Kim, Huda Y. Zoghbi, Shogo Ohmae, Ling-jie He, Roy V. Sillitoe, Nathan P. Achilly, Gregory J. Wojaczynski, Javier F. Medina
Publikováno v:
eLife
eLife, Vol 10 (2021)
eLife, Vol 10 (2021)
Rett syndrome is a devastating childhood neurological disorder caused by mutations in MECP2. Of the many symptoms, motor deterioration is a significant problem for patients. In mice, deleting Mecp2 from the cortex or basal ganglia causes motor dysfun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6435bfd16413c11e12125f5ff442c15b
https://doi.org/10.7554/elife.64833
https://doi.org/10.7554/elife.64833
Autor:
Nathan P. Achilly, Roy V. Sillitoe, Shogo Ohmae, Ling-jie He, Gregory J. Wojaczynski, Tao Lin, Olivia A. Kim, Huda Y. Zoghbi, Javier F. Medina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79b06262b3ff816d4ce625fbc012c466
https://doi.org/10.7554/elife.64833.sa2
https://doi.org/10.7554/elife.64833.sa2
Autor:
Tao Lin, Nathan P. Achilly, Shogo Ohmae, Ling-jie He, Roy V. Sillitoe, Olivia A. Kim, Gregory J. Wojaczynski, Huda Y. Zoghbi, Javier F. Medina
Rett syndrome is a devastating childhood neurological disorder caused by mutations in MECP2. Of the many symptoms, motor deterioration is a significant problem for patients. In mice, deleting Mecp2 from the cortex or basal ganglia causes motor dysfun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::792444be3ab1e4d154b80a2178f683fc
https://doi.org/10.1101/2020.11.12.380162
https://doi.org/10.1101/2020.11.12.380162
Autor:
Erik G Puffenberger, Robert N Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A Willert, Nathan P Achilly, Ryan P Cassidy, Christopher J Fiorentini, Kory F Heiken, Johnny J Lawrence, Molly H Mahoney, Christopher J Miller, Devika T Nair, Kristin A Politi, Kimberly N Worcester, Roni A Setton, Rosa Dipiazza, Eric A Sherman, James T Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L Rider, Stacey Gabriel, D Holmes Morton, Kevin A Strauss
Publikováno v:
PLoS ONE, Vol 7, Iss 1, p e28936 (2012)
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) m
Externí odkaz:
https://doaj.org/article/7c28aa674b674c77b7d6bd3569aa9184
Autor:
Charles P. Venditti, Kevin Bishop, Madeline L Arnold, Jennifer L. Sloan, Niraj S. Trivedi, Nathan P. Achilly, Raman Sood, MaryPat Jones, Abdel G. Elkahloun, Trevor Blake, Victoria Hoffmann, Ursula Harper, Jerrel L Catlett, Stacie M. Anderson, Milton A. English, Brian P. Brooks
Publikováno v:
Hum Mol Genet
Cobalamin C (cblC) deficiency, the most common inborn error of intracellular cobalamin metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and intracellular trafficking of vitamin B12. This recessive disorder is charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::078b9898da862cab32e21329fdd17171
https://pubmed.ncbi.nlm.nih.gov/32186706
https://pubmed.ncbi.nlm.nih.gov/32186706
Autor:
Terttu Suormala, Alison Brebner, Anita M. Quintana, Jennifer L. Sloan, Tamim H. Shaikh, David S. Rosenblatt, Matthias R. Baumgartner, Elizabeth A. Geiger, Gunter Scharer, Charles P. Venditti, Curtis R. Coughlin, Una Schneck, Brian Fowler, Nathan P. Achilly, Hung-Chun Yu, Johan L.K. Van Hove, David Watkins, Irini Manoli
Publikováno v:
American Journal of Human Genetics
Derivatives of vitamin B12 (cobalamin) are essential cofactors for enzymes required in intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by the accumulation of methylmalonic acid and/or homocysteine in blood and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33376f9fb279a574075ced42c7ea8585
Autor:
Nathan P. Achilly
Circadian rhythms coordinate cyclical behavioral and physiological changes in most organisms. In humans, this biological clock is located within the suprachiasmatic nucleus (SCN) of the hypothalamus and consists of a heterogeneous neuron population c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b333b5f62efda58fd6e7c425411d38c6
https://europepmc.org/articles/PMC4922597/
https://europepmc.org/articles/PMC4922597/
Autor:
Charles P. Venditti, Jennifer L. Sloan, Ighovie F. Onojafe, Nathan P. Achilly, Madeline L Arnold, Gene Elliot, Brian P. Brooks
Publikováno v:
Molecular Therapy. 24:S20-S21
Combined methylmalonic acidemia and homocysteinemia, cblC type (cblC), is the most common inborn error of cobalamin metabolism and is caused by mutations in the MMACHC gene. MMACHC transports and processes intracellular cobalamin (vitamin B12) into i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7ae9c32373701a7c0ed16b563aba022
https://doi.org/10.1016/s1525-0016(16)32855-6
https://doi.org/10.1016/s1525-0016(16)32855-6