Keyword

SPG4

Description: A hereditary spastic paraplegia caused by mutations in the SPAST gene, characterized by progressive lower-limb weakness and spasticity.

Primary topic: Hereditary Neurological Disorders (90%)

Wikidata ID: wiki/Q2308013

OpenAlex ID: keywords/spg4

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

2010 · Seong H. Park, Peng-Peng Zhu, et al. · Journal of Clinical Investigation · 382

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

2000 · N. Fonknechten · Human Molecular Genetics · 285

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

2012 · Josef Finsterer, Wolfgang Löscher, et al. · Journal of the Neurological Sciences · 283

Drosophila Spastin Regulates Synaptic Microtubule Networks and Is Required for Normal Motor Function

2004 · Nina Tang Sherwood, Qi Sun, et al. · PLoS Biology · 257

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The Hereditary Spastic Paraplegia Gene, spastin, Regulates Microtubule Stability to Modulate Synaptic Structure and Function

2004 · Nick Trotta, Genny Orso, et al. · Current Biology · 252

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Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

2005 · Katia J. Evans, Edgar R. Gomes, et al. · The Journal of Cell Biology · 221

Hereditary spastic paraplegias: an update

2007 · Christel Depienne, Giovanni Stevanin, et al. · Current Opinion in Neurology · 213

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

2009 · A. K. Erichsen, J. Koht, et al. · Brain · 212

Hereditary spastic paraplegia SPG4: what is known and not known about the disease

2015 · Joanna M. Solowska, Peter W. Baas · Brain · 185

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The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

2006 · J. D. Wood · Human Molecular Genetics · 152

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

2005 · Christopher M. Sanderson, James W. Connell, et al. · Human Molecular Genetics · 151

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Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia

2013 · Kyle R. Denton, Ling Lei, et al. · Stem Cells · 147

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Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

2000 · J C Lindsey, M E Lusher, et al. · Journal of Medical Genetics · 135

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Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

2004 · A. Errico · Human Molecular Genetics · 133

Genetics of Hereditary Spastic Paraplegias

2011 · Rebecca Schüle, Ludger Schöls · Seminars in Neurology · 130

Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus

2005 · P CLAUDIANI, E RIANO, et al. · Experimental Cell Research · 129

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

2013 · S. Havlicek, Z. Kohl, et al. · Human Molecular Genetics · 123

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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

2006 · Christel Depienne, Estelle Fedirko, et al. · Journal of Medical Genetics · 119

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

2018 · Livia Parodi, Silvia Fenu, et al. · Brain · 116

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SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

2006 · M. Namekawa, P. Ribai, et al. · Neurology · 115

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation

2000 · K.D. White, P.G. Ince, et al. · Neurology · 114

Atlastin1 Mutations Are Frequent in Young-Onset Autosomal Dominant Spastic Paraplegia

2004 · Alexandra Dürr, Agnès Camuzat, et al. · Archives of Neurology · 110

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knock-out mice

2012 · Coralie Fassier, Anne Tarrade, et al. · Disease Models & Mechanisms · 102

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Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

2008 · Sophie Tezenas du Montcel, Perrine Charles, et al. · Brain · 102

Clinical and genetic study of hereditary spastic paraplegia in Canada

2016 · Nicolas Chrestian, Nicolas Dupré, et al. · Neurology Genetics · 100

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Works count: 449

Citation count: 8,197