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1. Full Text AP-3-dependent trafficking and disease: the first decade
by Dell’Angelica, Esteban C
Current Opinion in Cell Biology, ISSN 0955-0674, 2009, Volume 21, Issue 4, pp. 552 - 559
The adaptor protein (AP)-3 complex defines a pathway for the intracellular trafficking of membrane-associated proteins in most eukaryotic cells. Ten years ago,... 
Internal Medicine | LYSOSOMAL MEMBRANE-PROTEINS | SYNAPTIC VESICLES | TRANSPORT | CAENORHABDITIS-ELEGANS | GENETIC-ANALYSIS | WHITE GENE | BETA-3A SUBUNIT | AP-3 ADAPTER COMPLEX | BLUE-CHEESE | HERMANSKY-PUDLAK-SYNDROME | CELL BIOLOGY | Hermanski-Pudlak Syndrome - metabolism | Adaptor Protein Complex 3 - physiology | Drosophila | Genomics | Humans | Eukaryota - metabolism | Organelles | Adaptor Protein Complex 3 - metabolism | Endosomes - metabolism | Protein Transport | Saccharomyces cerevisiae - metabolism | Hermanski-Pudlak Syndrome - genetics | Animals | Lysosomes - metabolism | Protein Binding | Amoeba - metabolism | Proteomics - methods
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2. Full Text Molecular Bases for the Recognition of Tyrosine-Based Sorting Signals
by Juan S. Bonifacino and Esteban C. Dell' Angelica
The Journal of Cell Biology, ISSN 0021-9525, 5/1999, Volume 145, Issue 5, pp. 923 - 926
Molecules | Receptors | Epithelial cells | Molecular interactions | Internalization | Transmembrane proteins | Cell biology | Amino acids | Cell membranes | Mini-Reviews | Cells | CYTOPLASMIC TAIL | FACTOR-II RECEPTOR | MEDIUM CHAINS | MDCK CELLS | INTERNALIZATION | ADAPTER-COMPLEX | CLATHRIN-ASSOCIATED PROTEINS | ENDOCYTOSIS | COATED PITS | MOTIF | CELL BIOLOGY | Tyrosine | Research | Membrane proteins
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3. Full Text Melanosomes made from recycling (endosomes): A tubule‐stabilizing function revealed for Biogenesis of Lysosome‐related Organelles Complex‐1
by Dell'Angelica, Esteban C
Pigment Cell & Melanoma Research, ISSN 1755-1471, 05/2016, Volume 29, Issue 3, pp. 258 - 259
Lysosomes | Melanosomes | Humans | Endosomes | Recycling (Waste, etc.)
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4. Full Text The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances
by Di Pietro, Santiago M and Dell'Angelica, Esteban C
Traffic, ISSN 1398-9219, 07/2005, Volume 6, Issue 7, pp. 525 - 533
Hermansky–Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding. These... 
AP‐3 | BLOC | platelet dense granule | protein trafficking | melanosome | organelle biogenesis | HOPS | schizophrenia | lysosome | membrane fusion | Membrane fusion | Organelle biogenesis | Lysosome | Schizophrenia | Platelet dense granule | AP-3 | Melanosome | Protein trafficking | Hermanski-Pudlak Syndrome - pathology | Hermanski-Pudlak Syndrome - physiopathology | Proteins - physiology | Humans
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5. Immunoprecipitation
by Bonifacino, Juan S and Gershlick, David C and Dell’Angelica, Esteban C
Current Protocols in Cell Biology, ISSN 1934-2500, 2016, Volume 2016, pp. 7.2.1 - 7.2.24
Antigen | Magnetic bead | Agarose bead | Immunoprecipitation | Antibody | Immunoprecipitation-recapture
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6. Full Text The building BLOC(k)s of lysosomes and related organelles
by Dell’Angelica, Esteban C
Current Opinion in Cell Biology, ISSN 0955-0674, 2004, Volume 16, Issue 4, pp. 458 - 464
Hermansky-Pudlak syndrome defines a group of genetic disorders characterized by defects in organelles of the endosomal-lysosomal system, most notably... 
BLOC | DGC | dystrophin-glycoprotein complex | homotypic vacuolar protein sorting | filamentous actin | Hermansky-Pudlak Syndrome | HPS | HOPS | BLOS | biogenesis of lysosome-related organelles complex | F-actin | adaptor protein | BLOC subunit | LAMP | MEMBRANE-FUSION | BIOGENESIS | ACTIN | HERMANSKY-PUDLAK-SYNDROME-1 HPS1 | PLATELET-DENSE GRANULES | MUSCULAR-DYSTROPHIES | SYNTAXIN 13 | HERMANSKY-PUDLAK-SYNDROME | MOUSE MODELS | PROTEIN COMPLEX | CELL BIOLOGY | Proteins | Animals | Carrier Proteins - metabolism | Hermanski-Pudlak Syndrome - metabolism | Lysosomes - metabolism | Humans | Nerve Tissue Proteins | Melanosomes - metabolism | Organelles - metabolism
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7. Full Text 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 Marta Starcevic and Esteban C. Dell'Angelica
Journal of Biological Chemistry, ISSN 0021-9258, 07/2004, Volume 279, Issue 27, pp. 28393 - 28401
Biogenesis of lysosome-related organelles complex-1 (BLOC-1) is a ubiquitously expressed multisubunit protein complex required for the normal biogenesis of... 
YEAST | FUSION | GENE | DYSBINDIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | ADAPTER | HPS4 | MODEL | GRANULES | HERMANSKY-PUDLAK-SYNDROME | Immunohistochemistry | Qb-SNARE Proteins | Humans | Molecular Sequence Data | Immunoblotting | RNA, Messenger - metabolism | Recombinant Fusion Proteins - metabolism | Proteins | Cattle | DNA Mutational Analysis | Mass Spectrometry | Qc-SNARE Proteins | Carrier Proteins - chemistry | Synaptosomal-Associated Protein 25 | Membrane Proteins - metabolism | Vesicular Transport Proteins | Carrier Proteins - physiology | Carrier Proteins - biosynthesis | Electrophoresis, Polyacrylamide Gel | Liver - metabolism | Mice, Inbred C57BL | Gene Expression Regulation | Codon, Nonsense | Chromatography | Precipitin Tests | Dystrophin-Associated Proteins | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Two-Hybrid System Techniques | Hermanski-Pudlak Syndrome - genetics | Membrane Proteins - biosynthesis | Phenotype | Animals | Carrier Proteins - metabolism | Membrane Proteins - chemistry | Blood Platelets - metabolism | Models, Biological | Lectins | Protein Binding | Cytosol - metabolism | Mice | HeLa Cells | Mutation | Melanosomes - metabolism | Dysbindin
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8. Full Text Coatopathies: Genetic Disorders of Protein Coats
by Dell'Angelica, Esteban C and Bonifacino, Juan S
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
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9. Immunoprecipitation
by Bonifacino, Juan S and Gershlick, David C and Dell'Angelica, Esteban C
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
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10. Full Text Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
by Arboleda, Valerie A and Lee, Hane and Parnaik, Rahul and Fleming, Alice and Banerjee, Abhik and Ferraz-De-Souza, Bruno and Délot, Emmanuèle C and Rodriguez-Fernandez, Imilce A and Braslavsky, Debora and Bergadá, Ignacio and Dell'Angelica, Esteban C and Nelson, Stanley F and Martinez-Agosto, Julian A and Achermann, John C and Vilain, Eric
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
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11. Full Text Identification of Atg2 and ArfGAP1 as candidate genetic modifiers of the eye pigmentation phenotype of adaptor protein-3 (AP-3) mutants in drosophila melanogaster
by Rodriguez-Fernandez, Imilce A and Dell'Angelica, Esteban C
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
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12. Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster: e0143026
by Rodriguez-Fernandez, Imilce A and Dell'Angelica, Esteban C
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... 
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13. Full Text 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 and Shotelersuk, Vorasuk and Aguilar, Ruben C and Gahl, William A and Bonifacino, Juan S
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... 
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14. Full Text Myosin Vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes
by Bultema, Jarred J and Boyle, Judith A and Malenke, Parker B and Martin, Faye E and Dell'Angelica, Esteban C and Cheney, Richard E and Di Pietro, Santiago M
Journal of Biological Chemistry, ISSN 0021-9258, 11/2014, Volume 289, Issue 48, pp. 33513 - 33528
Class V myosins are actin-based motors with conserved functions in vesicle and organelle trafficking. Herein we report the discovery of a function for Myosin... 
MELANIN TRANSFER | STRUCTURAL BASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRAFFICKING | UNCONVENTIONAL MYOSIN | MICE | LYSOSOME-RELATED ORGANELLES | AP-3 ADAPTER COMPLEX | MEMBRANE-PROTEINS | HERMANSKY-PUDLAK-SYNDROME | MELANOCYTES | Melanosomes - secretion | rab GTP-Binding Proteins - metabolism | Cell Line | Myosin Type V - metabolism | Membrane Glycoproteins - metabolism | Oxidoreductases - metabolism | Oxidoreductases - genetics | Humans | Melanocytes - secretion | rab GTP-Binding Proteins - genetics | Membrane Glycoproteins - genetics | Myosin Type V - genetics | Intramolecular Oxidoreductases - genetics | Melanocytes - cytology | Melanosomes - genetics | Intramolecular Oxidoreductases - metabolism | Membrane Trafficking | Protein Sorting | Rab | Myosin | Organelle | Membrane Protein | Melanogenesis | Cell Biology
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15. Full Text The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
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
Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease... 
rare diseases | diagnosis | National Institutes of Health | high-throughput nucleotide sequencing | phenotyping | cooperative behavior | National Institutes of Health (U.S.) | Rare Diseases - genetics | Metabolomics | Phenotype | United States | Humans | Information Dissemination - methods | Rare Diseases - diagnosis | Genotype | Genotyping Techniques | Sequence Analysis, DNA | Technology application | Diagnosis | Rare diseases | Usage | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing
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16. Full Text Dysbindin-containing complexes and their proposed functions in brain: From zero to (too) many in a decade
by Ghiani, Cristina A and Dell'Angelica, Esteban C
ASN Neuro, ISSN 1759-0914, 2011, Volume 3, Issue 2, pp. 109 - 124
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... 
DTNBP1 | Schizophrenia | Biogenesis of lysosome-related organelles complex-1 (BLOC-1) | Dysbindin | Dystrobrevinbinding protein | STORAGE POOL DEFICIENCY | WASP FAMILY | SCHIZOPHRENIA SUSCEPTIBILITY GENE | CANDIDATE GENES | dystrobrevin-binding protein | schizophrenia | dysbindin | NEUROSCIENCES | HERMANSKY-PUDLAK-SYNDROME | MOUSE MODELS | PROTEIN INTERACTIONS | BINDING PARTNERS | AP-3 COMPLEX | LYSOSOME-RELATED ORGANELLES | biogenesis of lysosome-related organelles complex-1 (BLOC-1) | Schizophrenia - metabolism | Wiskott-Aldrich Syndrome Protein Family - metabolism | Humans | Mice, Knockout | Behavior, Animal | Brain - metabolism | Dystrophin-Associated Proteins | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Multiprotein Complexes - metabolism | Multiprotein Complexes - chemistry | Animals | Carrier Proteins - metabolism | Synapses - metabolism | Neurons - physiology | Mice | Dystrophin - metabolism
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