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

Axonal transport deficits and neurodegenerative diseases

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Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

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NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

(2012) Ursula Schlötzer-Schrehardt et al.   OPHTHALMOLOGY

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

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

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Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

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Structural basis of semaphorin–plexin signalling

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Pleiotropic effects of spastin on neurite growth depending on expression levels

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

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A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform

(2008) Giuseppe Mancuso et al.   BMC BIOLOGY

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

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Quantitative and Functional Analyses of Spastin in the Nervous System: Implications for Hereditary Spastic Paraplegia

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The Microtubule-severing Proteins Spastin and Katanin Participate Differently in the Formation of Axonal Branches

(2008) Wenqian Yu et al.   MOLECULAR BIOLOGY OF THE CELL

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

(2008) Antonina Roll-Mecak et al.   NATURE