Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Kirkland Wilson"'
Autor:
Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori‐Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
Abstract Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c)
Externí odkaz:
https://doaj.org/article/1d6f59e1060d4ebfb86213ce0eccf18d
Publikováno v:
Molecular Genetics and Metabolism. 138:107501
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5fe26b1081de46fdbc75fdd34edc707
https://doi.org/10.1016/j.ymgme.2023.107501
https://doi.org/10.1016/j.ymgme.2023.107501
Autor:
Sumit Parikh, Kandamurugu Manickam, Dennis Bartholomew, Nicole Ducich, Edwin Ferren, Kirkland Wilson, Rosemary Hage, Douglas S. Kerr, Suzanne D. DeBrosse, Ha Kyung Shin, April Lehman, Jirair K. Bedoyan, Mari Mori, Bruce M. Cohen, Sharon Linard, Lori-Anne Schillaci
Publikováno v:
JIMD Reports
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ec8534541aa478bc3efe9887e90637
https://pubmed.ncbi.nlm.nih.gov/33204598
https://pubmed.ncbi.nlm.nih.gov/33204598
Autor:
Guo-Fang Zhang, Deborah M. Muoio, Kirkland Wilson, Robert W. McGarrah, Henri Brunengraber, Yingxue Wang, Bridgette A. Christopher
Publikováno v:
American Journal of Physiology-Endocrinology and Metabolism. 315:E622-E633
High concentrations of propionate and its metabolites are found in several diseases that are often associated with the development of cardiac dysfunction, such as obesity, diabetes, propionic acidemia, and methylmalonic acidemia. In the present work,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8028611f548aa2df0d9e3c4f6586e04a
https://doi.org/10.1152/ajpendo.00081.2018
https://doi.org/10.1152/ajpendo.00081.2018
Autor:
Dennis Bartholomew, Kirkland Wilson, Sharon Linard, Nicole Ducich, Sumit Parikh, April Lehman, Ha Kyung Shin, Bruce M. Cohen, Suzanne D. DeBrosse, Edwin C Ferren, Jirair K. Bedoyan, Douglas S. Kerr, Kandamurugu Manickam, Rosemary Hage, Lori-Anne Schillaci, Mari Mori
Publikováno v:
Molecular Genetics and Metabolism. 132:S6-S7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93358160892e8a2927f43460f8179439
https://doi.org/10.1016/s1096-7192(21)00097-4
https://doi.org/10.1016/s1096-7192(21)00097-4
Autor:
Guo-Fang Zhang, Gregory P. Tochtrop, Miaoqi Zhang, Jeremy P. Hess, Kirkland Wilson, Henri Brunengraber, Yong Han, Gary W. Cline, Kimberly A. Chapman
Propionate, 3-hydroxypropionate (3HP), methylcitrate, related compounds, and ammonium accumulate in body fluids of patients with disorders of propionyl-CoA metabolism, such as propionic acidemia. Although liver transplantation alleviates hyperammonem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7971dd9dd9fd50c560e5ce44de12a5fe
https://europepmc.org/articles/PMC5668600/
https://europepmc.org/articles/PMC5668600/
Autor:
Kirkland Wilson, Yair Anikster, Haggit Hurvitz, Heidi Dorward, Wendy Westbroek, Moran Lavie, William A. Gahl, Marjan Huizing, Haled Tamimi, Andrew R. Cullinane, Yackov Berkun, Igor Vainshtein, Shira G. Ziegler, Aharon Klar, Ashraf Ganem
Publikováno v:
Pigment Cell & Melanoma Research. 25:47-56
The RAB27A/Melanophilin/Myosin-5a tripartite protein complex is required for capturing mature melanosomes in the peripheral actin network of melanocytes for subsequent transfer to keratinocytes. Mutations in any one member of this tripartite complex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6a006217ca8e115c11669e4e405c3b9
https://doi.org/10.1111/j.1755-148x.2011.00901.x
https://doi.org/10.1111/j.1755-148x.2011.00901.x
Autor:
John Koshy, Guo-Fang Zhang, Yong Han, Henri Brunengraber, Kirkland Wilson, Gregory P. Tochtrop
Publikováno v:
The FASEB Journal. 29
Propionic acidemia (PA) is a rare autosomal recessive disorder leading to inhibition of propionate entering an anaplerotic pathway, via propionyl-CoA, of the citric acid cycle (CAC). PA is characte...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::253b3b149f85c4bace8b19b3351f7ad7
https://doi.org/10.1096/fasebj.29.1_supplement.884.29
https://doi.org/10.1096/fasebj.29.1_supplement.884.29
Autor:
Guo-Fang Zhang, Yong Han, John Koshy, Kirkland Wilson, Henri Brunengraber, Gregory P. Tochtrop
Publikováno v:
The FASEB Journal. 28
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eac2a86991d0f5a44e758a3e95a602a1
https://doi.org/10.1096/fasebj.28.1_supplement.590.2
https://doi.org/10.1096/fasebj.28.1_supplement.590.2
Autor:
Bernadette R. Gochuico, Mary Haughey, Nathan R. Peterson, Kirkland Wilson, Hai Ping Wu, Rodrigo T. Calado, Joel Moss, Neal S. Young, Shira G. Ziegler, William A. Gahl, Souheil El-Chemaly
Previous studies have identified subclinical lung disease in family members of probands with familial pulmonary fibrosis, but the natural history of preclinical pulmonary fibrosis is uncertain. The purpose of this study was to determine whether indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::225670d12b2e0598e8316d7ab6de756a
https://europepmc.org/articles/PMC3087459/
https://europepmc.org/articles/PMC3087459/