The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

(2014) Hiroyuki Ishiura et al.   JOURNAL OF HUMAN GENETICS

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8

(2014) Amir Jahic et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy

(2014) Eszter Zavodszky et al.   Nature Communications

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

WASH inhibits autophagy through suppression of Beclin 1 ubiquitination

(2013) Pengyan Xia et al.   EMBO JOURNAL

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

(2013) Christian Beetz et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

(2013) Alison M Elliott et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

(2013) Conceição Bettencourt et al.   JOURNAL OF NEUROLOGY

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

(2013) Susanne T. Bot et al.   JOURNAL OF NEUROLOGY

WASH is required for lysosomal recycling and efficient autophagic and phagocytic digestion

(2013) Jason S. King et al.   MOLECULAR BIOLOGY OF THE CELL

Retromer-mediated endosomal protein sorting: all WASHed up!

(2013) Matthew N.J. Seaman et al.   TRENDS IN CELL BIOLOGY

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

(2013) Mukhran Khundadze et al.   PLoS Genetics

The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function

(2012) Caroline Freeman et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Spg20−/− mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling

(2012) Benoît Renvoisé et al.   HUMAN MOLECULAR GENETICS

The retromer complex - endosomal protein recycling and beyond

(2012) M. N. J. Seaman   JOURNAL OF CELL SCIENCE

WASH Knockout T Cells Demonstrate Defective Receptor Trafficking, Proliferation, and Effector Function

(2012) J. T. Piotrowski et al.   MOLECULAR AND CELLULAR BIOLOGY

Trafficking defects in WASH-knockout fibroblasts originate from collapsed endosomal and lysosomal networks

(2012) Timothy S. Gomez et al.   MOLECULAR BIOLOGY OF THE CELL

Genetics of Hereditary Spastic Paraplegias

(2012) Rebecca Schüle et al.   SEMINARS IN NEUROLOGY

Recruitment of the endosomal WASH complex is mediated by the extended ‘tail’ of Fam21 binding to the retromer protein Vps35

(2011) Michael E. Harbour et al.   BIOCHEMICAL JOURNAL

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

(2011) Cyril Goizet et al.   HUMAN MUTATION

Synaptic Glutamate Release Is Modulated by the Na+-Driven Cl-/HCOFormula Exchanger Slc4a8

(2011) A. Sinning et al.   JOURNAL OF NEUROSCIENCE

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

(2010) Christoph S. Clemen et al.   BRAIN

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics

(2010) M. E. Harbour et al.   JOURNAL OF CELL SCIENCE

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

(2010) P. Bauer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons

(2010) Cynthia Soderblom et al.   NEUROGENETICS

WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes

(2010) D. Jia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Arp2/3 Activator WASH Controls the Fission of Endosomes through a Large Multiprotein Complex

(2009) Emmanuel Derivery et al.   DEVELOPMENTAL CELL

A FAM21-Containing WASH Complex Regulates Retromer-Dependent Sorting

(2009) Timothy S. Gomez et al.   DEVELOPMENTAL CELL

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

(2009) Paul R. Kasher et al.   JOURNAL OF NEUROCHEMISTRY

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

(2008) Rebecca Schüle et al.   NEUROGENETICS