Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

(2014) Ricardo H. Roda et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

(2013) Chiara Vantaggiato et al.   BRAIN

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

(2013) Jennifer Hirst et al.   MOLECULAR BIOLOGY OF THE CELL

Immunohistochemical localization of spatacsin in α-synucleinopathies

(2013) Satoshi Kuru et al.   NEUROPATHOLOGY

Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation

(2013) J. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Mukhran Khundadze et al.   PLoS Genetics

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Deficiency of ATP13A2 Leads to Lysosomal Dysfunction,  -Synuclein Accumulation, and Neurotoxicity

(2012) M. Usenovic et al.   JOURNAL OF NEUROSCIENCE

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Neurotransmitter abnormalities and response to supplementation in SPG11

(2012) Adeline Vanderver et al.   MOLECULAR GENETICS AND METABOLISM

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

(2012) Elodie Martin et al.   NEUROBIOLOGY OF DISEASE

Lysosomal Disorders Associated with Leukoencephalopathy

(2012) Deborah Renaud   SEMINARS IN NEUROLOGY

Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia

(2012) Jennifer Hirst et al.   TRAFFIC

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

(2011) Reena Prity Murmu et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Atypical juvenile parkinsonism in a consanguineous SPG15 family

(2011) Julia Schicks et al.   MOVEMENT DISORDERS

Erratum: Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

A Lysosomal Lair for a Pathogenic Protein Pair

(2011) T. M. Dawson et al.   Science Translational Medicine

The Fifth Adaptor Protein Complex

(2011) Jennifer Hirst et al.   PLOS BIOLOGY

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

(2010) Seong H. Park et al.   JOURNAL OF CLINICAL INVESTIGATION

PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody

(2010) Antonia P. Sagona et al.   NATURE CELL BIOLOGY

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

(2010) Bernard Puech et al.   OPHTHALMOLOGY

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates

(2009) M. B Tropak et al.   GLYCOBIOLOGY

Forceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene(SPG11)on Chromosome 15

(2009) M. Riverol et al.   JOURNAL OF NEUROIMAGING

SPG11 spastic paraplegia

(2009) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

(2009) John DePaolo et al.   MOVEMENT DISORDERS

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS