Molecular basis of inherited spastic paraplegias (Q34264634)

1 August 2017

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title

Molecular basis of inherited spastic paraplegias (English)

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1 August 2017

E Rugarli

2

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author name string

G Casari

series ordinal

1

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1 August 2017

1 June 2001

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Current Opinion in Genetics & Development

1 August 2017

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1 August 2017

11

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1 August 2017

3

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1 August 2017

336-342

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Genetic aspects of autosomal dominant late onset cerebellar ataxia

1 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

The phenotype of "pure" autosomal dominant spastic paraplegia

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Advances in hereditary spastic paraplegia.

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Classification of the hereditary ataxias and paraplegias

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Cell Surface Recognition and Neuron-Glia Interactions

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Immunocytochemical localization of cell adhesion molecule L1 in developing rat pyramidal tract

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Structure/function relationships of axon-associated adhesion receptors of the immunoglobulin superfamily

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

The role of cell adhesion molecule L1 in axonal extension, growth cone motility, and signal transduction

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

A clinical and neuroradiological study of X-linked hydrocephalus in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Disruption of the mouse L1 gene leads to malformations of the nervous system

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1.

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Analysis of the L1-deficient mouse phenotype reveals cross-talk between Sema3A and L1 signaling pathways in axonal guidance

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

The proteolipid protein gene and myelin disorders in man and animal models

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

The rumpshaker mutation in spastic paraplegia

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Assembly of CNS myelin in the absence of proteolipid protein

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Afg3p, a mitochondrial ATP-dependent metalloprotease, is involved in degradation of mitochondrially-encoded Cox1, Cox3, Cob, Su6, Su8 and Su9 subunits of the inner membrane complexes III, IV and V

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Yta10p is required for the ATP-dependent degradation of polypeptides in the inner membrane of mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

AAA proteases: cellular machines for degrading membrane proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Mitochondrial morphological and functional defects in yeast caused by yme1 are suppressed by mutation of a 26S protease subunit homologue

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Sequence analysis of the AAA protein family

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Katanin, a microtubule-severing protein, is a novel AAA ATPase that targets to the centrosome using a WD40-containing subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Microtubule disassembly by ATP-dependent oligomerization of the AAA enzyme katanin

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking

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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Identification of a set of yeast genes coding for a novel family of putative ATPases with high similarity to constituents of the 26S protease complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Association of yeast SAP1, a novel member of the 'AAA' ATPase family of proteins, with the chromatin protein SIN1.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4

7 January 2021

10.1016/S0959-437X(00)00199-4

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

11377972