Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D Steel, M Zech, C Zhao, KES Barwick… - Annals of …, 2020 - Wiley Online Library
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after
maximal investigation, implying that a number of causative genes have not yet been …
maximal investigation, implying that a number of causative genes have not yet been …
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia
The homotypic fusion and protein sorting (HOPS) complex is the structural bridge necessary
for the fusion of late endosomes and autophagosomes with lysosomes. Recent publications …
for the fusion of late endosomes and autophagosomes with lysosomes. Recent publications …
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing
Combined and complex dystonias are heterogeneous movement disorders combining
dystonia with other motor and/or systemic signs. Although we are beginning to understand …
dystonia with other motor and/or systemic signs. Although we are beginning to understand …
Genetic dystonias: update on classification and new genetic discoveries
IJ Keller Sarmiento, NE Mencacci - Current neurology and neuroscience …, 2021 - Springer
Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …
genes associated with dystonia has been growing exponentially. We provide here a …
Increased diagnostic yield in complex dystonia through exome sequencing
T Wirth, C Tranchant, N Drouot, B Keren… - Parkinsonism & Related …, 2020 - Elsevier
Introduction A strategy based on targeted gene panel sequencing identifies possibly
pathogenic variants in fewer than 20% of cases in early-onset and familial form of dystonia …
pathogenic variants in fewer than 20% of cases in early-onset and familial form of dystonia …
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for
protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key …
protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key …
Monogenic variants in dystonia: an exome-wide sequencing study
Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …
isolation (isolated dystonia), in combination with other movement disorders (combined …
Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up
M Zech, S Boesch, A Jochim, S Weber… - Movement …, 2017 - Wiley Online Library
Background Dystonia is clinically and genetically heterogeneous. Despite being a first‐line
testing tool for heterogeneous inherited disorders, whole‐exome sequencing has not yet …
testing tool for heterogeneous inherited disorders, whole‐exome sequencing has not yet …
Genetics and pathogenesis of dystonia
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …
characterized by abnormal movements and postures caused by involuntary sustained or …
Novel dystonia genes: clues on disease mechanisms and the complexities of high‐throughput sequencing
Dystonia is a genetically heterogenous disease and a prototype disorder where next‐
generation sequencing has facilitated the identification of new pathogenic genes. This …
generation sequencing has facilitated the identification of new pathogenic genes. This …