Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

The lysosomal disease caused by mutant VPS33A

(2019) Elena V Pavlova et al.   HUMAN MOLECULAR GENETICS

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

(2019) Kishore R. Kumar et al.   PARKINSONISM & RELATED DISORDERS

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dystonia

(2018) Bettina Balint et al.   Nature Reviews Disease Primers

The Genetic Landscape of Diamond-Blackfan Anemia

(2018) Jacob C. Ulirsch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HOPS catalyzes the interdependent assembly of each vacuolar SNARE into a SNARE complex

(2017) Amy Orr et al.   MOLECULAR BIOLOGY OF THE CELL

Iron metabolism and its detection through MRI in parkinsonian disorders: a systematic review

(2017) Sara Pietracupa et al.   NEUROLOGICAL SCIENCES

Understanding dystonia: diagnostic issues and how to overcome them

(2016) Sarah Camargos et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up

(2016) Michael Zech et al.   MOVEMENT DISORDERS

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

(2016) Esther Meyer et al.   NATURE GENETICS

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia

(2016) Xiaodong Cai et al.   Scientific Reports

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Hypomyelination and developmental delay associated withVPS11mutation in Ashkenazi-Jewish patients

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

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

Phenomenology and classification of dystonia: A consensus update

(2013) Alberto Albanese et al.   MOVEMENT DISORDERS

The HOPS Proteins hVps41 and hVps39 Are Required for Homotypic and Heterotypic Late Endosome Fusion

(2012) Maaike S. Pols et al.   TRAFFIC

HOPS prevents the disassembly of trans-SNARE complexes by Sec17p/Sec18p during membrane fusion

(2010) Hao Xu et al.   EMBO JOURNAL

VPS41, a protein involved in lysosomal trafficking, is protective in Caenorhabditis elegans and mammalian cellular models of Parkinson's disease

(2009) Qingmin Ruan et al.   NEUROBIOLOGY OF DISEASE