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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

Lancet neurology, 2019-12, Vol.18 (12), p.1136-1146

2019

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Hereditary spastic paraplegias: membrane traffic and the motor pathway

Nature reviews. Neuroscience, 2011-01, Vol.12 (1), p.31-42

2011

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

The Journal of cell biology, 2017-05, Vol.216 (5), p.1337-1355

2017

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Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

Experimental neurology, 2013-08, Vol.246, p.14-25

2013

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Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function

Frontiers in neuroscience, 2019-11, Vol.13, p.1179-1179

2019

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Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

Traffic (Copenhagen, Denmark), 2009-01, Vol.10 (1), p.42-56

2009

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An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome

The Journal of cell biology, 2013-08, Vol.202 (3), p.527-543

2013

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Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS

Nature communications, 2020-11, Vol.11 (1), p.5614-5614, Article 5614

2020

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Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin

PloS one, 2016-03, Vol.11 (3), p.e0152413-e0152413

2016

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An Automated Image Analysis System to Quantify Endosomal Tubulation

PloS one, 2016-12, Vol.11 (12), p.e0168294-e0168294

2016

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Endocytic membrane fusion and buckling-induced microtubule severing mediate cell abscission

Journal of cell science, 2011-05, Vol.124 (Pt 9), p.1411-1424

2011

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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

The Journal of clinical investigation, 2012-02, Vol.122 (2), p.538-544

2012

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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

European journal of human genetics : EJHG, 2020-12, Vol.28 (12), p.1763-1768

2020

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Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

Nature neuroscience, 2007-02, Vol.10 (2), p.177-185

2007

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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

American journal of human genetics, 2017-02, Vol.100 (2), p.364-370

2017

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A Kinesin Heavy Chain ( KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

American journal of human genetics, 2002-11, Vol.71 (5), p.1189-1194

2002

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Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

American journal of human genetics, 2007-01, Vol.80 (1), p.152-161

2007

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A systematic analysis of human CHMP protein interactions: Additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex

Genomics (San Diego, Calif.), 2006-09, Vol.88 (3), p.333-346

2006

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Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

Human molecular genetics, 2006-01, Vol.15 (2), p.307-318

2006

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

Nature reviews. Neuroscience, 2011-01, Vol.12 (2), p.118-118

2011

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Recurrent pneumothorax

The Lancet (British edition), 2011-05, Vol.377 (9777), p.1624-1624

2011

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Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

Journal of neurology, 2015-07, Vol.262 (7), p.1601-1612

2015

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AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network

Molecular biology of the cell, 2022-10, Vol.33 (12), p.ar102-ar102

2022

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Ataxia and spastic paraplegia in mitochondrial disease

Handbook of Clinical Neurology, 2023, Vol.194, p.79-98

2023

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ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic

Cellular and molecular life sciences : CMLS, 2020-07, Vol.77 (13), p.2641-2658

2020

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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

Hereditary spastic paraplegias: membrane traffic and the motor pathway

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

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function

Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome

Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS

Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin

An Automated Image Analysis System to Quantify Endosomal Tubulation

Endocytic membrane fusion and buckling-induced microtubule severing mediate cell abscission

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

A Kinesin Heavy Chain ( KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

A systematic analysis of human CHMP protein interactions: Additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

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

Recurrent pneumothorax

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network

Ataxia and spastic paraplegia in mitochondrial disease

ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic

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