Mutation inVPS33Aaffects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement

(2016) Konstanze Hörtnagel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

(2016) Jinglan Zhang et al.   PLoS Genetics

Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33AD251Emutation

(2015) Yuanli Zhen et al.   Autophagy

Hypomyelination and developmental delay associated withVPS11mutation in Ashkenazi-Jewish patients

(2015) Shimon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Vps33B is required for delivery of endocytosed cargo to lysosomes

(2015) Romain Galmes et al.   TRAFFIC

Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes

(2015) Lena Wartosch et al.   TRAFFIC

The HOPS complex mediates autophagosome–lysosome fusion through interaction with syntaxin 17

(2014) Peidu Jiang et al.   MOLECULAR BIOLOGY OF THE CELL

Interaction of the HOPS complex with Syntaxin 17 mediates autophagosome clearance in Drosophila

(2014) Szabolcs Takáts et al.   MOLECULAR BIOLOGY OF THE CELL

HomSI: a homozygous stretch identifier from next-generation sequencing data

(2013) Zeliha Görmez et al.   BIOINFORMATICS

Autophagy failure in Alzheimer's disease and the role of defective lysosomal acidification

(2013) Devin M. Wolfe et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

CORVET and HOPS tethering complexes - coordinators of endosome and lysosome fusion

(2013) H. J. k. Balderhaar et al.   JOURNAL OF CELL SCIENCE

Newborn screening and diagnosis of mucopolysaccharidoses

(2013) Shunji Tomatsu et al.   MOLECULAR GENETICS AND METABOLISM

Crystal Structures of the Sec1/Munc18 (SM) Protein Vps33, Alone and Bound to the Homotypic Fusion and Vacuolar Protein Sorting (HOPS) Subunit Vps16*

(2013) Richard W. Baker et al.   PLoS One

Structural basis of Vps33A recruitment to the human HOPS complex by Vps16

(2013) S. C. Graham et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sec1/Munc18 protein Vps33 binds to SNARE domains and the quaternary SNARE complex

(2012) Braden T. Lobingier et al.   MOLECULAR BIOLOGY OF THE CELL

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Lysosomal Storage Causes Cellular Dysfunction in Mucolipidosis II Skin Fibroblasts

(2011) Takanobu Otomo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

(2011) Nikolay A Barashkov et al.   JOURNAL OF HUMAN GENETICS

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly

(2010) N. Maksimova et al.   JOURNAL OF MEDICAL GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The SM Protein Car/Vps33A Regulates SNARE-mediated Trafficking to Lysosomes and Lysosome-related Organelles

(2009) Mohammed A. Akbar et al.   MOLECULAR BIOLOGY OF THE CELL

Mucolipidosis Type IV: The Effect of Increased Lysosomal pH on the Abnormal Lysosomal Storage

(2009) Aviram Kogot-Levin et al.   PEDIATRIC RESEARCH

Membrane Fusion: Grappling with SNARE and SM Proteins

(2009) T. C. Sudhof et al.   SCIENCE