Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency. (Q33630685)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

0 references

1 reference

SNAP associated protein Dmel_CG9958

1 reference

Pallidin Dmel_CG14133

1 reference

Dysbindin Dmel_CG6856

1 reference

Biogenesis of lysosome-related organelles complex 1, subunit 4 Dmel_CG14149

1 reference

Biogenesis of lysosome-related organelles complex 1, subunit 1 Dmel_CG30077

1 reference

Biogenesis of lysosome-related organelles complex 1, subunit 2 Dmel_CG14145

1 reference

Biogenesis of lysosome-related organelles complex 1, subunit 3 Dmel_CG34255

1 reference

author

Veronica Cheli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Julian Martinez-agosto

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

12

David E Krantz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Richard W Daniels

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Ruth Godoy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Diego J Hoyle

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Vasundhara Kandachar

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Marta Starcevic

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Stephen Poole

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Aaron DiAntonio

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Vett K Lloyd

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Henry C Chang

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Esteban C Dell'Angelica

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

publication date

16 December 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

861-878

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

AP-1 and KIF13A coordinate endosomal sorting and positioning during melanosome biogenesis

15 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Epistasis and its implications for personal genetics.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Dysbindin modulates prefrontal cortical glutamatergic circuits and working memory function in mice.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Targeted gain-of-function screening in Drosophila using GAL4-UAS and random transposon insertions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Common variants on chromosome 6p22.1 are associated with schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

AP-3-dependent trafficking and disease: the first decade

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Emerging new paradigms for ABCG transporters

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Recent advances in using Drosophila to model neurodegenerative diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Neurobehavioral abnormalities in the dysbindin-1 mutant, sandy, on a C57BL/6J genetic background

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Snapin facilitates the synchronization of synaptic vesicle fusion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

21 June 2018

ESCRTs and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Cost-effective strategies for completing the interactome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

The white gene of Drosophila melanogaster encodes a protein with a role in courtship behavior

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Impaired long-term memory retention and working memory in sdy mutant mice with a deletion in Dtnbp1, a susceptibility gene for schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Nuclear DISC1 regulates CRE-mediated gene transcription and sleep homeostasis in the fruit fly.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

The dystrobrevin-binding protein 1 gene: features and networks

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Schizophrenia, "just the facts" what we know in 2008. 2. Epidemiology and etiology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Rab GTPases and their roles in brain neurons and glia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

The clathrin-binding motif and the J-domain of Drosophila Auxilin are essential for facilitating Notch ligand endocytosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Auxilin is essential for Delta signaling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

A glial amino-acid transporter controls synapse strength and courtship in Drosophila

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Melanosomes--dark organelles enlighten endosomal membrane transport

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

What is the function of neuronal AP-3?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Canonical interaction of cyclin G associated kinase with adaptor protein 1 regulates lysosomal enzyme sorting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Multiple roles of auxilin and hsc70 in clathrin-mediated endocytosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Neuronal and non-neuronal functions of the AP-3 sorting machinery

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

When intracellular logistics fails--genetic defects in membrane trafficking.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Adherens junctions in Drosophila retinal morphogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Drosophila melanogaster auxilin regulates the internalization of Delta to control activity of the Notch signaling pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Analysis of the human protein interactome and comparison with yeast, worm and fly interaction datasets

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Evolving endosomes: how many varieties and why?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Biogenesis of pigment granules: a sensitive way to regulate melanocyte function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Lightoid and Claret: a rab GTPase and its putative guanine nucleotide exchange factor in biogenesis of Drosophila eye pigment granules.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

The building BLOC(k)s of lysosomes and related organelles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

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)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Defective pigment granule biogenesis and aberrant behavior caused by mutations in the Drosophila AP-3beta adaptin gene ruby

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

A structural explanation for the binding of multiple ligands by the alpha-adaptin appendage domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

A function for the AP3 coat complex in synaptic vesicle formation from endosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Misexpression of the white (w) gene triggers male-male courtship in Drosophila

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Ultrastructure of developing melanosomes in C57 Black and pallid mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Multiple sequence alignment with hierarchical clustering

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

A stable genomic source of P element transposase in Drosophila melanogaster.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

cappuccino and spire: two unique maternal-effect loci required for both the anteroposterior and dorsoventral patterns of the Drosophila embryo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Position-independent germline transformation in Drosophila using a cuticle pigmentation gene as a selectable marker.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816613

Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Schizophrenia: the "BLOC" may be in the endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Mutation screening of AP3M2 in Japanese epilepsy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Association analysis between schizophrenia and the AP-3 complex genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Behavioral abnormalities and dopamine reductions in sdy mutant mice with a deletion in Dtnbp1, a susceptibility gene for schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Behavioral characterization of dysbindin-1 deficient sandy mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Distinct requirements for the AP-3 adaptor complex in pigment granule and synaptic vesicle biogenesis in Drosophila melanogaster

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Enhancer of garnet/deltaAP-3 is a cryptic allele of the white gene and identifies the intracellular transport system for the white protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Inactivation of Drosophila Apaf-1 related killer suppresses formation of polyglutamine aggregates and blocks polyglutamine pathogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

A genetic and molecular characterization of the garnet gene of Drosophila melanogaster

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Increased expression of the Drosophila vesicular glutamate transporter leads to excess glutamate release and a compensatory decrease in quantal content.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Rab11 is required during Drosophila eye development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Uncoating of clathrin-coated vesicles in presynaptic terminals: roles for Hsc70 and auxilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

Dysbindin (DTNBP1) and the Biogenesis of Lysosome-Related Organelles Complex 1 (BLOC-1): Main and Epistatic Gene Effects Are Potential Contributors to Schizophrenia Susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP555

21 January 2018

Identifiers

DOI

10.1093/HMG/DDP555

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015953%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

20015953

1 reference