Molecular basis of inherited spastic paraplegias

scientific article

Molecular basis of inherited spastic paraplegias is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0959-437X(00)00199-4
P698PubMed publication ID11377972

P50authorElena I RugarliQ42316505
P2093author name stringG Casari
P2860cites workATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol traffickingQ22011057
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloproteaseQ24309083
Katanin, a Microtubule-Severing Protein, Is a Novel AAA ATPase that Targets to the Centrosome Using a WD40-Containing SubunitQ24311782
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 geneQ24321498
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3Q24539096
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneityQ24540152
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisQ24672831
Association of yeast SAP1, a novel member of the 'AAA' ATPase family of proteins, with the chromatin protein SIN1.Q27930948
The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondriaQ27931009
Identification of a set of yeast genes coding for a novel family of putative ATPases with high similarity to constituents of the 26S protease complexQ27938250
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutationQ28138281
Novel mutations in spastin gene and absence of correlation with age at onset of symptomsQ28138321
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegiaQ28141185
Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in miceQ28141588
Hereditary spastic paraplegia caused by mutations in the SPG4 geneQ28141674
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneityQ73187415
Mitochondrial analysis in autosomal dominant hereditary spastic paraplegiaQ73230827
Analysis of the L1-deficient mouse phenotype reveals cross-talk between Sema3A and L1 signaling pathways in axonal guidanceQ74310834
The proteolipid protein gene and myelin disorders in man and animal modelsQ28141963
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegiaQ28145715
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14qQ28256966
Genetic aspects of autosomal dominant late onset cerebellar ataxiaQ33669128
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.Q33868283
AAA proteases: cellular machines for degrading membrane proteinsQ33899401
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.Q33907977
Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2.Q33917461
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.Q34145197
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13Q34145220
Classification of the hereditary ataxias and paraplegiasQ34247421
Disruption of the mouse L1 gene leads to malformations of the nervous systemQ34444794
Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.Q34537910
The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cellsQ34687885
Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient miceQ35931734
Cell Surface Recognition and Neuron-Glia InteractionsQ36951456
Mitochondrial morphological and functional defects in yeast caused by yme1 are suppressed by mutation of a 26S protease subunit homologueQ40366269
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working groupQ40997676
The clinical spectrum of mutations in L1, a neuronal cell adhesion moleculeQ41127100
Structure/function relationships of axon-associated adhesion receptors of the immunoglobulin superfamilyQ41235460
Advances in hereditary spastic paraplegiaQ41573317
The role of cell adhesion molecule L1 in axonal extension, growth cone motility, and signal transductionQ41606107
Sequence analysis of the AAA protein familyQ41615832
Microtubule disassembly by ATP-dependent oligomerization of the AAA enzyme kataninQ41697683
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.Q46363658
The mouse fidgetin gene defines a new role for AAA family proteins in mammalian developmentQ47825007
Axonal Swellings and Degeneration in Mice Lacking the Major Proteolipid of MyelinQ48004959
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.Q48451285
Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1.Q48502944
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.Q52025922
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusQ55670712
A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2Q58328242
Chaperone-like activity of the AAA domain of the yeast Yme1 AAA proteaseQ59076132
Immunocytochemical localization of cell adhesion molecule L1 in developing rat pyramidal tractQ69683860
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 VQ71103986
The rumpshaker mutation in spastic paraplegiaQ71648664
The phenotype of "pure" autosomal dominant spastic paraplegiaQ72071746
A clinical and neuroradiological study of X-linked hydrocephalus in JapanQ72317022
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2pQ72449258
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markersQ72530000
Yta10p is required for the ATP-dependent degradation of polypeptides in the inner membrane of mitochondriaQ72717089
Assembly of CNS myelin in the absence of proteolipid proteinQ73016640
P433issue3
P304page(s)336-342
P577publication date2001-06-01
P13046publication type of scholarly workreview articleQ7318358
P1433published inCurrent Opinion in Genetics & DevelopmentQ13505684
P1476titleMolecular basis of inherited spastic paraplegias
P478volume11

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cites work (P2860)
Q37361462A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13
Q73366589A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family
Q28218618A novel mutation in the spastin gene in a family with spastic paraplegia
Q28594710Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
Q61925474Chapter 16 Overview on Hereditary Spastic Paraplegias
Q57499026Chapter 21 Disease-Modifying Therapies in Motor Neuron Disorders: The Present Position and Potential Future Developments
Q82029139Chapter 5 Cytopathology of the motor neuron
Q85964898Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia
Q35172288Disruption of cellular transport: a common cause of neurodegeneration?
Q33315299Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity
Q40266306Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.
Q24563811Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
Q58923949Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives
Q52609963Identification of the Drosophila melanogaster homolog of the human spastin gene
Q37098009Inherited mitochondrial optic neuropathies
Q34923057Is the transportation highway the right road for hereditary spastic paraplegia?
Q24299953Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
Q34141153Mitochondrial Protein Quality Control Systems in Aging and Disease
Q37508192Phylogeny of proteolipid proteins: divergence, constraints, and the evolution of novel functions in myelination and neuroprotection
Q33538064Role of spastin in apical domain control along the rhabdomere elongation in Drosophila photoreceptor
Q37763723Roles of mitochondria in human disease
Q24301953SPG20 Protein Spartin Associates with Cardiolipin via Its Plant-Related Senescence Domain and Regulates Mitochondrial Ca2+ Homeostasis
Q21710716Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
Q48125857The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene

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