The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet  -granule biogenesis

(2012) D. Urban et al.   BLOOD

Frequent PVT1 Rearrangement and Novel Chimeric Genes PVT1-NBEA and PVT1-WWOX Occur in Multiple Myeloma with 8q24 Abnormality

(2012) H. Nagoshi et al.   CANCER RESEARCH

The role of ALFY in selective autophagy

(2012) P Isakson et al.   CELL DEATH AND DIFFERENTIATION

An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4

(2012) H Zhao et al.   GENES AND IMMUNITY

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

(2012) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

(2012) Abdullah Alangari et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Drosophila mauveMutants Reveal a Role of LYST Homologs Late in the Maturation of Phagosomes and Autophagosomes

(2012) Mokhlasur Rahman et al.   TRAFFIC

Neurobeachin, a Regulator of Synaptic Protein Targeting, Is Associated with Body Fat Mass and Feeding Behavior in Mice and Body-Mass Index in Humans

(2012) Pawel K. Olszewski et al.   PLoS Genetics

Alfy-dependent elimination of aggregated proteins by macroautophagy

(2011) Ai Yamamoto et al.   Autophagy

The Autism Candidate Gene Neurobeachin Encodes a Scaffolding Protein Implicated in Membrane Trafficking and Signaling

(2011) K. Volders et al.   CURRENT MOLECULAR MEDICINE

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

(2011) Tyler Mark Pierson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

(2011) S. Gulsuner et al.   GENOME RESEARCH

The NIH Undiagnosed Diseases Program

(2011) William A. Gahl   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

(2011) Walter HA Kahr et al.   NATURE GENETICS

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

(2011) Meral Gunay-Aygun et al.   NATURE GENETICS

A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome

(2011) Zuhre Kaya et al.   PEDIATRIC BLOOD & CANCER

The Enlarged Lysosomes in beigej Cells Result From Decreased Lysosome Fission and Not Increased Lysosome Fusion

(2011) Nina Durchfort et al.   TRAFFIC

Dendritic spine formation and synaptic function require neurobeachin

(2011) Katharina Niesmann et al.   Nature Communications

Functional interaction between Sequestosome-1/p62 and Autophagy-Linked FYVE-containing protein WDFY3 in human osteoclasts

(2010) Lynne J. Hocking et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

(2010) M. Gunay-Aygun et al.   BLOOD

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles

(2010) Dries Castermans et al.   HUMAN MOLECULAR GENETICS

The Selective Macroautophagic Degradation of Aggregated Proteins Requires the PI3P-Binding Protein Alfy

(2010) Maria Filimonenko et al.   MOLECULAR CELL

CDD: a Conserved Domain Database for the functional annotation of proteins

(2010) A. Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus

(2010) Wanling Yang et al.   PLoS Genetics

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family

(2009) Agathe Burgess et al.   BIOINFORMATICS

Chediak-Higashi syndrome

(2009) Jerry Kaplan et al.   CURRENT OPINION IN HEMATOLOGY

Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma

(2009) Julie O'Neal et al.   EXPERIMENTAL HEMATOLOGY

An evolutionarily conserved nested gene pair — Mab21 and Lrba/Nbea in metazoan

(2009) W.H. Tsang et al.   GENOMICS

FAN Stimulates TNF -Induced Gene Expression, Leukocyte Recruitment, and Humoral Response

(2009) A. Montfort et al.   JOURNAL OF IMMUNOLOGY

The Drosophila BEACH Family Protein, Blue Cheese, Links Lysosomal Axon Transport with Motor Neuron Degeneration

(2009) A. Lim et al.   JOURNAL OF NEUROSCIENCE

Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses

(2009) Lucian Medrihan et al.   JOURNAL OF PHYSIOLOGY-LONDON

Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus

(2009) Jian-Wen Han et al.   NATURE GENETICS

LPS-induced autophagy is mediated by oxidative signaling in cardiomyocytes and is associated with cytoprotection

(2008) Hua Yuan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Comparative transcriptional profiling and evolutionary analysis of the GRAM domain family in eukaryotes

(2007) Shu-Ye Jiang et al.   DEVELOPMENTAL BIOLOGY