Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion

Converging cellular themes for the hereditary spastic paraplegias

(2018) Craig Blackstone   CURRENT OPINION IN NEUROBIOLOGY

A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8

(2018) Limin Ma et al.   MEDICINE

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

(2017) Rachel Allison et al.   JOURNAL OF CELL BIOLOGY

New genetic causes for complex hereditary spastic paraplegia

(2017) Paulo Victor Sgobbi de Souza et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling

(2017) Kerrie E. McNally et al.   NATURE CELL BIOLOGY

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

(2016) Paulo Victor Sgobbi de Souza et al.   CEREBELLUM

Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8

(2016) Yuta Ichinose et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

The Ankrd13 Family of Ubiquitin-interacting Motif-bearing Proteins Regulates Valosin-containing Protein/p97 Protein-mediated Lysosomal Trafficking of Caveolin 1

(2016) Daocharad Burana et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50

(2016) Arunas Kvainickas et al.   JOURNAL OF CELL SCIENCE

Loss of strumpellin in the melanocytic lineage impairs the WASH Complex but does not affect coat colour

(2016) Benjamin J. Tyrrell et al.   Pigment Cell & Melanoma Research

Caveolae: One Function or Many?

(2016) Jade P.X. Cheng et al.   TRENDS IN CELL BIOLOGY

FAM21 directs SNX27–retromer cargoes to the plasma membrane by preventing transport to the Golgi apparatus

(2016) Seongju Lee et al.   Nature Communications

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

(2016) Paulina Bartuzi et al.   Nature Communications

Endocytic Trafficking of Integrins in Cell Migration

(2015) Nikki R. Paul et al.   CURRENT BIOLOGY

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

(2015) Christelle Tesson et al.   HUMAN GENETICS

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

(2015) Amir Jahic et al.   Orphanet Journal of Rare Diseases

RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation

(2014) C. L. Freeman et al.   JOURNAL OF CELL SCIENCE

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

(2014) Jaerak Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Retromer: A Master Conductor of Endosome Sorting

(2014) C. Burd et al.   Cold Spring Harbor Perspectives in Biology

miR-191 and miR-135 are required for long-lasting spine remodelling associated with synaptic long-term depression

(2014) Zhonghua Hu et al.   Nature Communications

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

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Regulation of WASH-Dependent Actin Polymerization and Protein Trafficking by Ubiquitination

(2013) Yi-Heng Hao et al.   CELL

Ubiquitination of the N-terminal Region of Caveolin-1 Regulates Endosomal Sorting by the VCP/p97 AAA-ATPase

(2013) Philipp Kirchner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

A global analysis of SNX27–retromer assembly and cargo specificity reveals a function in glucose and metal ion transport

(2013) Florian Steinberg et al.   NATURE CELL BIOLOGY

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

Hereditary spastic paraplegia caused by a mutation in the VCP gene

(2012) S. T. de Bot et al.   BRAIN

Regulation of integrin trafficking, cell adhesion, and cell migration by WASH and the Arp2/3 complex

(2012) Steve N. Duleh et al.   Cytoskeleton

MITD1 is recruited to midbodies by ESCRT-III and participates in cytokinesis

(2012) Seongju Lee et al.   MOLECULAR BIOLOGY OF THE CELL

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

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

New insights into the regulation and cellular functions of the ARP2/3 complex

(2012) Jeremy D. Rotty et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Neuron-targeted Caveolin-1 Protein Enhances Signaling and Promotes Arborization of Primary Neurons

(2011) Brian P. Head et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Actin polymerization driven by WASH causes V-ATPase retrieval and vesicle neutralization before exocytosis

(2011) Michael Carnell et al.   JOURNAL OF CELL BIOLOGY

The Arp2/3 activator WASH regulates  5 1-integrin-mediated invasive migration

(2011) T. Zech et al.   JOURNAL OF CELL SCIENCE

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

(2011) Danilo Ritz et al.   NATURE CELL BIOLOGY

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

(2010) Christoph S. Clemen et al.   BRAIN

Caveolin-1 is ubiquitinated and targeted to intralumenal vesicles in endolysosomes for degradation

(2010) Arnold Hayer et al.   JOURNAL OF CELL BIOLOGY

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

cAMP-Dependent Axon Guidance Is Distinctly Regulated by Epac and Protein Kinase A

(2009) A. J. Murray et al.   JOURNAL OF NEUROSCIENCE

Caveolin-1-dependent  1 integrin endocytosis is a critical regulator of fibronectin turnover

(2008) F. Shi et al.   JOURNAL OF CELL SCIENCE

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols