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Pigment Cell & Melanoma Research, ISSN 1755-1471, 05/2016, Volume 29, Issue 3, pp. 258 - 259
Journal Article
Traffic, ISSN 1398-9219, 07/2005, Volume 6, Issue 7, pp. 525 - 533
Journal Article
Current Protocols in Cell Biology, ISSN 1934-2500, 2016, Volume 2016, pp. 7.2.1 - 7.2.24
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 07/2004, Volume 279, Issue 27, pp. 28393 - 28401
Journal Article
ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, VOL 35, ISSN 1081-0706, 10/2019, Volume 35, Issue 1, pp. 131 - 168
Protein coats are supramolecular complexes that assemble on the cytosolic face of membranes to promote cargo sorting and transport carrier formation in the... 
rare diseases | sorting signals | protein trafficking | clathrin | coatomer | neurological disorders | ADP-RIBOSYLATION FACTOR | CARGO-RECOGNITION | HERMANSKY-PUDLAK-SYNDROME | DE-NOVO MUTATIONS | STRUCTURAL BASIS | TRANS-GOLGI NETWORK | AP-3 ADAPTER COMPLEX | SPASTIC-PARAPLEGIA | FAMILIAL HYPOCALCIURIC HYPERCALCEMIA
Journal Article
Current protocols in cell biology, 06/2016, Volume 71
Selective immunoprecipitation of proteins is a useful tool for characterizing proteins and protein-protein interactions. Clear step-by-step protocols are... 
Saccharomyces cerevisiae - metabolism | Microspheres | Animals | Antibodies - metabolism | Immunoprecipitation - methods | Solutions | Magnetic Phenomena | Humans | Glass | Protein Denaturation | Detergents | Cell Adhesion
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2012, Volume 44, Issue 7, pp. 788 - 792
IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an undergrowth developmental... 
BECKWITH-WIEDEMANN-SYNDROME | GENE | UBIQUITIN | SEQUENCE | GENETICS & HEREDITY | DEPENDENT KINASE INHIBITOR | ADRENAL HYPOPLASIA | INHERITANCE | ASSOCIATION | P57(KIP2) | FAMILY | Cyclin-Dependent Kinase Inhibitor p57 - metabolism | Hypoadrenocorticism, Familial | Protein Binding - genetics | Cyclin-Dependent Kinase Inhibitor p57 - genetics | Exons | Humans | Fetal Growth Retardation - genetics | Male | Adrenal Hyperplasia, Congenital - genetics | Genetic Loci | Beckwith-Wiedemann Syndrome - genetics | Osteochondrodysplasias - genetics | Proliferating Cell Nuclear Antigen - genetics | HEK293 Cells | Female | Genetic Diseases, X-Linked - genetics | Genetic Predisposition to Disease | Drosophila | Adrenal Hyperplasia, Congenital - metabolism | Fetal Growth Retardation - metabolism | Protein Structure, Tertiary - genetics | Beckwith-Wiedemann Syndrome - metabolism | Genetic Diseases, X-Linked - metabolism | Adrenal Insufficiency | Animals | Chromosomes, Human, Pair 11 | Mutation | Proliferating Cell Nuclear Antigen - metabolism | Cell Line, Transformed | Osteochondrodysplasias - metabolism | Gene mutations | Fetus | Genetic aspects | Research | Health aspects | Growth retardation | Risk factors | Genes | Genomes | Experiments | Proteins | Design | Insects | Genetics | Genetic testing | Charitable foundations | Bioinformatics | Binding sites | Deoxyribonucleic acid--DNA
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11, p. e0143026
The Adaptor Protein (AP)-3 complex is an evolutionary conserved, molecular sorting device that mediates the intracellular trafficking of proteins to lysosomes... 
COMPLEX | INTRACELLULAR-TRANSPORT | COATED VESICLES | MULTIDISCIPLINARY SCIENCES | PLATELET-DENSE GRANULES | NUCLEOTIDE EXCHANGE FACTOR | BETA-3A SUBUNIT | SYNDROME TYPE-2 | LYSOSOME-RELATED ORGANELLES | GTPASE-ACTIVATING PROTEIN | HERMANSKY-PUDLAK-SYNDROME | Autophagy-Related Proteins | Drosophila melanogaster - physiology | Photoreceptor Cells, Invertebrate - physiology | Male | DNA-(Apurinic or Apyrimidinic Site) Lyase - physiology | Autophagy | Drosophila melanogaster - genetics | DNA-(Apurinic or Apyrimidinic Site) Lyase - genetics | Drosophila Proteins - physiology | Lysosomes - metabolism | Pigmentation - genetics | Gene Expression Regulation, Developmental | Gene Deletion | Female | Eye Proteins - genetics | GTPase-Activating Proteins - physiology | GTP Phosphohydrolases - physiology | Chromosome Mapping | Hemizygote | Phenotype | Animals | GTP Phosphohydrolases - metabolism | GTP Phosphohydrolases - genetics | Eye Proteins - physiology | Models, Genetic | Drosophila Proteins - genetics | GTPase-Activating Proteins - genetics | Mutation | Evolution, Molecular | Genetic aspects | Biosynthesis | Research | Fruit-flies | Drosophila | Melanosomes | Trafficking | Genes | Parkinsons disease | Lysosomes | Lethality | Males | Kinases | Machinery | Defects | Eye | Proteins | GTPase-activating protein | Evolutionary conservation | Evolution | Protein transport | Chromosomes | Albinism | Mammals | Chromosome 3 | Organelles | Pigmentation | Mutants | Insects | Gene mapping | Phagocytosis | Guanosinetriphosphatase
Journal Article
PLoS ONE, 11/2015, Volume 10, Issue 11
The Adaptor Protein (AP)-3 complex is an evolutionary conserved, molecular sorting device that mediates the intracellular trafficking of proteins to lysosomes... 
Journal Article
Molecular Cell, ISSN 1097-2765, 1999, Volume 3, Issue 1, pp. 11 - 21
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defective lysosome-related organelles. Here, we report the identification of two HPS... 
Journal Article
by Ramoni, Rachel B and Mulvihill, John J and Adams, Christopher J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Alejandro, Mercedes E and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Paul R and Lee, Brendan H and Lee, Hane and Levy, Denise J and Levy, Shawn E and Lewis, Richard A and Liebendorder, Adam P and ... and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Journal Article