Search Results - "Dell'Angelica, Esteban C"

Coatopathies: Genetic Disorders of Protein Coats by Dell'Angelica, Esteban C, Bonifacino, Juan S

“…Protein coats are supramolecular complexes that assemble on the cytosolic face of membranes to promote cargo sorting and transport carrier formation in the…”
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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases by Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Tavyev Asher, Y. Jane, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina, Martinez-Agosto, Julian A., Nelson, Stanley F.

“…We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic…”
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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome by Arboleda, Valerie A, Lee, Hane, Parnaik, Rahul, Fleming, Alice, Banerjee, Abhik, Ferraz-de-Souza, Bruno, Délot, Emmanuèle C, Rodriguez-Fernandez, Imilce A, Braslavsky, Debora, Bergadá, Ignacio, Dell'Angelica, Esteban C, Nelson, Stanley F, Martinez-Agosto, Julian A, Achermann, John C, Vilain, Eric

“…Eric Vilain and colleagues identify missense mutations in the imprinted gene CDKN1C , encoding the p57KIP2 cyclin dependent kinase inhibitor, in individuals…”
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Identification of Snapin and Three Novel Proteins (BLOS1, BLOS2, and BLOS3/Reduced Pigmentation) as Subunits of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1) by Starcevic, Marta, Dell'Angelica, Esteban C

“…Biogenesis of lysosome-related organelles complex-1 (BLOC-1) is a ubiquitously expressed multisubunit protein complex required for the normal biogenesis of…”
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The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances by Di Pietro, Santiago M., Dell'Angelica, Esteban C.

“…Hermansky–Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding. These…”
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Dysbindin-containing complexes and their proposed functions in brain: from zero to (too) many in a decade by Ghiani, Cristina A, Dell'Angelica, Esteban C

“…Dysbindin (also known as dysbindin-1 or dystrobrevin-binding protein 1) was identified 10 years ago as a ubiquitously expressed protein of unknown function. In…”
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Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes by Falcón-Pérez, Juan M., Dell'Angelica, Esteban C.

“…Zinc accumulation in the lumen of cytoplasmic vesicles is one of the mechanisms by which cells can store significant amounts of this essential but potentially…”
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Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency by Lee, Frank Y, Wang, Huei-Bin, Hitchcock, Olivia N, Loh, Dawn Hsiao, Whittaker, Daniel S, Kim, Yoon-Sik, Aiken, Achilles, Kokikian, Collette, Dell'Angelica, Esteban C, Colwell, Christopher S, Ghiani, Cristina A

“…Mice lacking a functional Biogenesis of Lysosome-related Organelles Complex 1 (BLOC-1), such as those of the pallid line, display cognitive and behavioural…”
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BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles by Setty, Subba Rao Gangi, Tenza, Danièle, Truschel, Steven T, Chou, Evelyn, Sviderskaya, Elena V, Theos, Alexander C, Lamoreux, M Lynn, Di Pietro, Santiago M, Starcevic, Marta, Bennett, Dorothy C, Dell'Angelica, Esteban C, Raposo, Graça, Marks, Michael S

“…Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defects in the formation and function of lysosome-related organelles such as…”
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Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3 by Falcón-Pérez, Juan M, Nazarian, Ramin, Sabatti, Chiara, Dell'Angelica, Esteban C

“…Late endosomes and lysosomes of mammalian cells in interphase tend to concentrate in the perinuclear region that harbors the microtubule-organizing center. We…”
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Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor by Dell’Angelica, Esteban C, Shotelersuk, Vorasuk, Aguilar, Ruben C, Gahl, William A, Bonifacino, Juan S

“…Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defective lysosome-related organelles. Here, we report the identification of two HPS…”
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Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function by Sitaram, Anand, Piccirillo, Rosanna, Palmisano, Ilaria, Harper, Dawn C, Dell'Angelica, Esteban C, Schiaffino, M Vittoria, Marks, Michael S

“…Oculocutaneous albinism type 2 is caused by defects in the gene OCA2, encoding a pigment cell-specific, 12-transmembrane domain protein with homology to ion…”
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Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency by Cheli, Verónica T., Daniels, Richard W., Godoy, Ruth, Hoyle, Diego J., Kandachar, Vasundhara, Starcevic, Marta, Martinez-Agosto, Julian A., Poole, Stephen, DiAntonio, Aaron, Lloyd, Vett K., Chang, Henry C., Krantz, David E., Dell'Angelica, Esteban C.

“…Biogenesis of lysosome-related organelles complex 1 (BLOC-1) is a protein complex formed by the products of eight distinct genes. Loss-of-function mutations in…”
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Melanosomes made from recycling (endosomes): A tubule-stabilizing function revealed for Biogenesis of Lysosome-related Organelles Complex-1 by Dell'Angelica, Esteban C.

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Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein by Nazarian, Ramin, Starcevic, Marta, Spencer, Melissa J, Dell'Angelica, Esteban C

“…Dysbindin was identified as a dystrobrevin-binding protein potentially involved in the pathogenesis of muscular dystrophy. Subsequently, genetic studies have…”
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BLOC-1, a Novel Complex Containing the Pallidin and Muted Proteins Involved in the Biogenesis of Melanosomes and Platelet-dense Granules by Falcón-Pérez, Juan M., Starcevic, Marta, Gautam, Rashi, Dell'Angelica, Esteban C.

“…Recent studies have led to the identification of a group of genes required for normal biogenesis of lysosome-related organelles such as melanosomes and…”
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Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation by Hoyle, Diego J., Rodriguez-Fernandez, Imilce A., Dell'Angelica, Esteban C.

“…Summary The biogenesis of melanosomes is a multistage process that requires the function of cell‐type‐specific and ubiquitously expressed proteins. OCA2, the…”
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Biogenesis of Lysosome-Related Organelles Complex 3 (BLOC-3): A Complex Containing the Hermansky-Pudlak Syndrome (HPS) Proteins HPS1 and HPS4 by Nazarian, Ramin, Falcón-Pérez, Juan M., Dell'Angelica, Esteban C.

“…Hermansky-Pudlak syndrome (HPS) defines a group of autosomal recessive disorders characterized by deficiencies in lysosomerelated organelles such as…”
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AP-3-dependent trafficking and disease: the first decade by Dell’Angelica, Esteban C

“…The adaptor protein (AP)-3 complex defines a pathway for the intracellular trafficking of membrane-associated proteins in most eukaryotic cells. Ten years ago,…”
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Characterization of BLOC‐2, a Complex Containing the Hermansky–Pudlak Syndrome Proteins HPS3, HPS5 and HPS6 by Di Pietro, Santiago M., Falcón‐Pérez, Juan M., Dell'Angelica, Esteban C.

“…Hermansky–Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding due to defects…”
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