Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Martina C. Mcguinness"'
Autor:
Gloria Shin, Kirby D. Smith, Shirley H. Purvis, Tonya Schneidereith, Gao X. Dong, Forrest Spencer, Rebecca Deering Brose, Jeffrey R. Keefer, Martina C. McGuinness
Publikováno v:
Human Molecular Genetics. 21:4237-4252
Various small molecule pharmacologic agents with different known functions produce similar outcomes in diverse Mendelian and complex disorders, suggesting that they may induce common cellular effects. These molecules include histone deacetylase inhib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a958442ff0b5f940ba9b6515c0a05a54
https://doi.org/10.1093/hmg/dds247
https://doi.org/10.1093/hmg/dds247
Publikováno v:
Expert Opinion on Investigational Drugs. 9:1985-1992
Clinically, peroxisome biogenesis disorders (PBDs) are a group of lethal diseases with a continuum of severity of clinical symptoms ranging from the most severe form, Zellweger syndrome, to the milder forms, infantile Refsum disease and rhizomelic ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1b11f5553bc833d0aa08bb27bce5606
https://doi.org/10.1517/13543784.9.9.1985
https://doi.org/10.1517/13543784.9.9.1985
Autor:
Karen Garnaas, David S. Walton, Ann B. Moser, Angela Liu, Ellen R. Elias, Grace L. Chen, Mary Anne Guggenheim, Paul A. Watkins, Ola H. Skjeldal, Hugo W. Moser, Magnhild Rasmussen, Laird G. Jackson, Donald Gordon, Amiya K. Hajra, Gerald V. Raymond, Martina C. Mcguinness, Sakkubai Naidu
Publikováno v:
The Journal of Pediatrics. 127:13-22
Objective: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a064274ee2ed899fef6e3ce8fe463be5
https://doi.org/10.1016/s0022-3476(95)70250-4
https://doi.org/10.1016/s0022-3476(95)70250-4
Autor:
Ann K, Heinzer, Martina C, McGuinness, Jyh-Feng, Lu, O Colin, Stine, Heming, Wei, Mark, Van der Vlies, Gao-Xiang, Dong, James, Powers, Paul A, Watkins, Kirby D, Smith
Publikováno v:
Advances in experimental medicine and biology. 544
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fa5e075bcb2805672c6937a559411fd7
https://pubmed.ncbi.nlm.nih.gov/14713218
https://pubmed.ncbi.nlm.nih.gov/14713218
Autor:
Mark Van Der Vlies, Kirby D. Smith, Ann K. Heinzer, O. Colin Stine, Paul A. Watkins, He-Ming Wei, Jyh Feng Lu, Gaoxiang Dong, Martina C. McGuinness, James M. Powers
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781461347828
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder that affects 1 in 35000 males and is marked by neurodegeneration, adrenal insufficiency and infertility. All characteristics are not always present in every X-ALD patient and the rate of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee917c3c6e4c8a13c041a11a2d009736
https://doi.org/10.1007/978-1-4419-9072-3_12
https://doi.org/10.1007/978-1-4419-9072-3_12
Autor:
James M. Powers, Jyh Feng Lu, G.-X. Dong, Hong Zhang, Paul A. Watkins, Ann K. Heinzer, Martina C. McGuinness, Kirby D. Smith
Peroxisomes are single membrane-bound subcellular organelles present in most eukaryotic cells (8). Peroxisomes are involved in several vital metabolic pathways, including β-oxidation of very-long-chain fatty acids (VLCFA; C>22:0), plasmalogen biosyn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc4490836a28b959abdd2734df3f209b
https://europepmc.org/articles/PMC151532/
https://europepmc.org/articles/PMC151532/
Publikováno v:
Molecular genetics and metabolism. 68(1)
Activation of fatty acids, catalyzed by acyl-coenzyme A (acyl-CoA) synthetases, is required for their subsequent metabolism. Peroxisomes and microsomes contain very-long-chain acyl-CoA synthetases (VLCSs) capable of activating fatty acids with a chai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f21d5b634ce7ea1b4c76005c15e00fdb
https://pubmed.ncbi.nlm.nih.gov/10479480
https://pubmed.ncbi.nlm.nih.gov/10479480
Autor:
Ann B. Moser, Martina C. Mcguinness, Lelita T. Braiterman, Paul A. Watkins, He-Ming Wei, Stephan Kemp, Kirby D. Smith, Jyh Feng Lu
Publikováno v:
Nature medicine, 4(11), 1261-1268. Nature Publishing Group
As more functional redundancy in mammalian cells is discovered, enhanced expression of genes involved in alternative pathways may become an effective form of gene therapy. X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with impaired
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff97f698056882017d7483397667388e
https://pubmed.ncbi.nlm.nih.gov/9809546
https://pubmed.ncbi.nlm.nih.gov/9809546
Autor:
Gerald G. Johnson, Ann B. Moser, Siqun Zheng, Martina C. McGuinness, Paul A. Watkins, Michael T. Geraghty, Lelita T. Braiterman, Kirby D. Smith
Publikováno v:
Human molecular genetics. 7(2)
X-Linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by reduced peroxisomal very long chain fatty acid (VLCFA) beta-oxidation. The X - ALD gene product (ALDP) is a peroxisomal transmembrane protein with an ATP binding c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99fbb7a5a4b3a66826700ec23811a877
https://pubmed.ncbi.nlm.nih.gov/9425230
https://pubmed.ncbi.nlm.nih.gov/9425230
Autor:
Ann B. Moser, Paul A. Watkins, Gerald V. Raymond, Beth A. Hicks, Hugo W. Moser, Martina C. McGuinness, Jeanne M. Sisk
Publikováno v:
Annals of neurology. 38(3)
The clinical distinction between patients with a disorder of peroxisome assembly (e.g., Zellweger syndrome) and those with a defect in a peroxisomal fatty acid beta-oxidation enzyme can be difficult. We studied 29 patients suspected of belonging to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f187b9ecbab8b4da001387178fac10f
https://pubmed.ncbi.nlm.nih.gov/7668838
https://pubmed.ncbi.nlm.nih.gov/7668838