Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics von Huizing, Marjan, Helip-Wooley, Amanda, Westbroek, Wendy, Gunay-Aygun, Meral, Gahl, William A

Volltext

Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome von Klootwijk, Enriko D, Reichold, Markus, Helip-Wooley, Amanda, Tolaymat, Asad, Broeker, Carsten, Robinette, Steven L, Reinders, Joerg, Peindl, Dominika, Renner, Kathrin, Eberhart, Karin, Assmann, Nadine, Oefner, Peter J, Dettmer, Katja, Sterner, Christina, Schroeder, Josef, Zorger, Niels, Witzgall, Ralph, Reinhold, Stephan W, Stanescu, Horia C, Bockenhauer, Detlef, Jaureguiberry, Graciana, Courtneidge, Holly, Hall, Andrew M, Wijeyesekera, Anisha D, Holmes, Elaine, Nicholson, Jeremy K, O'Brien, Kevin, Bernardini, Isa, Krasnewich, Donna M, Arcos-Burgos, Mauricio, Izumi, Yuichiro, Nonoguchi, Hiroshi, Jia, Yuzhi, Reddy, Janardan K, Ilyas, Mohammad, Unwin, Robert J, Gahl, William A, Warth, Richard, Kleta, Robert

Volltext

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis von Cullinane, Andrew R, Yeager, Caroline, Dorward, Heidi, Carmona-Rivera, Carmelo, Wu, Hai Ping, Moss, Joel, O'Brien, Kevin J, Nathan, Steven D, Meyer, Keith C, Rosas, Ivan O, Helip-Wooley, Amanda, Huizing, Marjan, Gahl, William A, Gochuico, Bernadette R

Volltext

Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells von PARK, Margaret, HELIP-WOOLEY, Amanda, THOENE, Jess

Volltext

Improper Trafficking of Melanocyte-Specific Proteins in Hermansky–Pudlak Syndrome Type-5 von Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi M., Koshoffer, Amy, Huizing, Marjan, Boissy, Raymond E., Gahl, William A.

Volltext

Melanocyte-Specific Proteins Are Aberrantly Trafficked in Melanocytes of Hermansky-Pudlak Syndrome-Type 3 von Boissy, Raymond E., Richmond, Bonnie, Huizing, Marjan, Helip-Wooley, Amanda, Zhao, Yang, Koshoffer, Amy, Gahl, William A.

Volltext

Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5 von Huizing, Marjan, Hess, Richard, Dorward, Heidi, Claassen, David A., Helip‐Wooley, Amanda, Kleta, Robert, Kaiser‐Kupfer, Muriel I., White, James G., Gahl, William A.

Volltext

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics von Schreyer-Shafir, Nira, Huizing, Marjan, Anikster, Yair, Nusinker, Ziva, Bejarano-Achache, Idit, Maftzir, Genia, Resnik, Luba, Helip-Wooley, Amanda, Westbroek, Wendy, Gradstein, Libe, Rosenmann, Ada, Blumenfeld, Anat

Volltext

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex von Gwynn, Babette, Martina, Jose A., Bonifacino, Juan S., Sviderskaya, Elena V., Lamoreux, M. Lynn, Bennett, Dorothy C., Moriyama, Kengo, Huizing, Marjan, Helip-Wooley, Amanda, Gahl, William A., Webb, Lisa S., Lambert, Amy J., Peters, Luanne L.

Volltext

Identifying Putative Promoter Regions of Hermansky‐Pudlak Syndrome Genes by Means of Phylogenetic Footprinting von Stanescu, Horia, Wolfsberg, Tyra G., Moreland, R. Travis, Ayub, Mariam H., Erickson, Elizabeth, Westbroek, Wendy, Huizing, Marjan, Gahl, William A., Helip‐Wooley, Amanda

Volltext

Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6 von Huizing, M, Pederson, B, Hess, R A, Griffin, A, Helip-Wooley, A, Westbroek, W, Dorward, H, O’Brien, K J, Golas, G, Tsilou, E, White, J G, Gahl, W A

Volltext

Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1 von Rouhani, Farshid N, Brantly, Mark L, Markello, Thomas C, Helip-Wooley, Amanda, O'Brien, Kevin, Hess, Richard, Huizing, Marjan, Gahl, William A, Gochuico, Bernadette R

Volltext

Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes von Helip-Wooley, Amanda, Thoene, Jess G

Volltext

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1 von Rouhani, Farshid N, Brantly, Mark L, Markello, Thomas C, Helip-Wooley, Amanda, O'Brien, Kevin, Hess, Richard, Huizing, Marjan, Gahl, William A, Gochuico, Bernadette R

Volltext

Cellular Defects in Chediak–Higashi Syndrome Correlate with the Molecular Genotype and Clinical Phenotype von Westbroek, Wendy, Adams, David, Huizing, Marjan, Koshoffer, Amy, Dorward, Heidi, Tinloy, Bradford, Parkes, Jennifer, Helip-Wooley, Amanda, Kleta, Robert, Tsilou, Ekaterina, Duvernay, Patrice, Digre, Kathleen B., Creel, Donnell J., White, James G., Boissy, Raymond E., Gahl, William A.

Volltext

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin von Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, Mommaas, Mieke, Boissy, Raymond E, Gahl, William A, Huizing, Marjan

Volltext

Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome von Klootwijk, Enriko D, Reichold, Markus, Helip-Wooley, Amanda, Tolaymat, Asad, Broeker, Carsten, Robinette, Steven L, Reinders, Joerg, Peindl, Dominika, Renner, Kathrin, Eberhart, Karin, Assmann, Nadine, Oefner, Peter J, Dettmer, Katja, Sterner, Christina, Schroeder, Josef, Zorger, Niels, Witzgall, Ralph, Reinhold, Stephan W, Stanescu, Horia C, Bockenhauer, Detlef, Jaureguiberry, Graciana, Courtneidge, Holly, Hall, Andrew M, Wijeyesekera, Anisha D, Holmes, Elaine, Nicholson, Jeremy K, O'Brien, Kevin, Bernardini, Isa, Krasnewich, Donna M, Arcos-Burgos, Mauricio, Izumi, Yuichiro, Nonoguchi, Hiroshi, Jia, Yuzhi, Reddy, Janardan K, Ilyas, Mohammad, Unwin, Robert J, Gahl, William A, Warth, Richard, Kleta, Robert

Volltext

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome von Westbroek, Wendy, Tuchman, Maya, Tinloy, Bradford, De Wever, Olivier, Vilboux, Thierry, Hertz, Jens M., Hasle, Henrik, Heilmann, Carsten, Helip-Wooley, Amanda, Kleta, Robert, Gahl, William A.

Volltext

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky–Pudlak syndrome von Nazarian, Ramin, Huizing, Marjan, Helip-Wooley, Amanda, Starcevic, Marta, Gahl, William A., Dell’Angelica, Esteban C.

Volltext

Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome von Huizing, Marjan, Parkes, Jennifer M., Helip-Wooley, Amanda, White, James G., Gahl, William A.

Volltext