Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

(2014) S. Havlicek et al.   HUMAN MOLECULAR GENETICS

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

(2013) Chiara Vantaggiato et al.   BRAIN

α-Synuclein Oligomers Impair Neuronal Microtubule-Kinesin Interplay

(2013) Iryna Prots et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Axonal transport deficits and neurodegenerative diseases

(2013) Stéphanie Millecamps et al.   NATURE REVIEWS NEUROSCIENCE

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

(2013) Mukhran Khundadze et al.   PLoS Genetics

Differential neurite outgrowth is required for axon specification by cultured hippocampal neurons

(2012) Hideaki Yamamoto et al.   JOURNAL OF NEUROCHEMISTRY

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

LOXL1 Deficiency in the Lamina Cribrosa as Candidate Susceptibility Factor for a Pseudoexfoliation-Specific Risk of Glaucoma

(2012) Ursula Schlötzer-Schrehardt et al.   OPHTHALMOLOGY

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

(2012) Jennifer Hirst et al.   TRAFFIC

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

The Fifth Adaptor Protein Complex

(2011) Jennifer Hirst et al.   PLOS BIOLOGY

Structural basis of semaphorin–plexin signalling

(2010) Bert J. C. Janssen et al.   NATURE

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

(2010) Laura Southgate et al.   NEUROGENETICS

Development, specification, and diversity of callosal projection neurons

(2010) Ryann M. Fame et al.   TRENDS IN NEUROSCIENCES

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

(2008) Paola S. Denora et al.   HUMAN MUTATION

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

(2008) Peter Bauer et al.   NEUROGENETICS