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Amanda Helip-Wooley
Researcher at National Institutes of Health
Publications - 20
Citations - 1266
Amanda Helip-Wooley is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Hermansky–Pudlak syndrome & Oculocutaneous albinism. The author has an hindex of 16, co-authored 20 publications receiving 1174 citations.
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Journal ArticleDOI
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
TL;DR: This review discusses the main components of LRO biogenesis, and summarizes the function, composition, and resident cell types of the major LROs.
Journal ArticleDOI
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Robert Kleta,Elisa Romeo,Zorica Ristic,Toshihiro Ohura,C Stuart,Mauricio Arcos-Burgos,Mital H. Dave,Carsten A. Wagner,Simone R M Camargo,Sumiko Inoue,Norio Matsuura,Amanda Helip-Wooley,Detlef Bockenhauer,Richard Warth,Isa Bernardini,Gepke Visser,Thomas Eggermann,Philip Lee,Arthit Chairoungdua,Promsuk Jutabha,Ellappan Babu,Sirinun Nilwarangkoon,Naohiko Anzai,Yoshikatsu Kanai,François Verrey,William A. Gahl,Akio Koizumi +26 more
TL;DR: The protein product of SLC6A19, the Hartnup transporter, is expressed primarily in intestine and renal proximal tubule and functions as a neutral amino acid transporter.
Journal ArticleDOI
Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome
Enriko Klootwijk,Markus Reichold,Amanda Helip-Wooley,Asad Tolaymat,Carsten Broeker,Steven L. Robinette,Joerg Reinders,Dominika Peindl,Kathrin Renner,Karin Eberhart,Nadine Assmann,Peter J. Oefner,Katja Dettmer,Christina Sterner,Josef Schroeder,Niels Zorger,Ralph Witzgall,Stephan W. Reinhold,Horia Stanescu,Horia Stanescu,Detlef Bockenhauer,Graciana Jaureguiberry,Holly Courtneidge,Andrew M. Hall,Anisha Wijeyesekera,Elaine Holmes,Jeremy K. Nicholson,Kevin O'Brien,Isa Bernardini,Donna M. Krasnewich,Mauricio Arcos-Burgos,Yuichiro Izumi,Hiroshi Nonoguchi,Yuzhi Jia,Janardan K. Reddy,Mohammad Ilyas,Robert J. Unwin,William A. Gahl,Richard Warth,Robert Kleta,Robert Kleta +40 more
TL;DR: Mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi's syndrome; this indicates a central role of mitochondria in proximal tubular function.
Journal ArticleDOI
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
Wendy Westbroek,David H. Adams,Marjan Huizing,Amy Koshoffer,Heidi Dorward,Bradford Tinloy,Jennifer M. Parkes,Amanda Helip-Wooley,Robert Kleta,E.T. Tsilou,Patrice Duvernay,Kathleen B. Digre,Donnell J. Creel,James G. White,Raymond E. Boissy,William A. Gahl +15 more
Journal ArticleDOI
Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1
Farshid N. Rouhani,Mark L. Brantly,Thomas C. Markello,Amanda Helip-Wooley,Kevin O'Brien,Richard A. Hess,Marjan Huizing,William A. Gahl,Bernadette R. Gochuico +8 more
TL;DR: In HPS-1, alveolar inflammation predominantly involves macrophages and is associated with high lung concentrations of cytokines and chemokines, which provides a model system in which to study the pathogenesis and treatment of HPS pulmonary fibrosis.