scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0959-437X(00)00199-4 |
P698 | PubMed publication ID | 11377972 |
P50 | author | Elena I Rugarli | Q42316505 |
P2093 | author name string | G Casari | |
P2860 | cites work | ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking | Q22011057 |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease | Q24309083 | ||
Katanin, a Microtubule-Severing Protein, Is a Novel AAA ATPase that Targets to the Centrosome Using a WD40-Containing Subunit | Q24311782 | ||
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene | Q24321498 | ||
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 | Q24539096 | ||
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity | Q24540152 | ||
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis | Q24672831 | ||
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 mitochondria | Q27931009 | ||
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 | Q27938250 | ||
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation | Q28138281 | ||
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms | Q28138321 | ||
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia | Q28141185 | ||
Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice | Q28141588 | ||
Hereditary spastic paraplegia caused by mutations in the SPG4 gene | Q28141674 | ||
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity | Q73187415 | ||
Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia | Q73230827 | ||
Analysis of the L1-deficient mouse phenotype reveals cross-talk between Sema3A and L1 signaling pathways in axonal guidance | Q74310834 | ||
The proteolipid protein gene and myelin disorders in man and animal models | Q28141963 | ||
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia | Q28145715 | ||
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q | Q28256966 | ||
Genetic aspects of autosomal dominant late onset cerebellar ataxia | Q33669128 | ||
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. | Q33868283 | ||
AAA proteases: cellular machines for degrading membrane proteins | Q33899401 | ||
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 19q13 | Q34145220 | ||
Classification of the hereditary ataxias and paraplegias | Q34247421 | ||
Disruption of the mouse L1 gene leads to malformations of the nervous system | Q34444794 | ||
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 cells | Q34687885 | ||
Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice | Q35931734 | ||
Cell Surface Recognition and Neuron-Glia Interactions | Q36951456 | ||
Mitochondrial morphological and functional defects in yeast caused by yme1 are suppressed by mutation of a 26S protease subunit homologue | Q40366269 | ||
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group | Q40997676 | ||
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule | Q41127100 | ||
Structure/function relationships of axon-associated adhesion receptors of the immunoglobulin superfamily | Q41235460 | ||
Advances in hereditary spastic paraplegia | Q41573317 | ||
The role of cell adhesion molecule L1 in axonal extension, growth cone motility, and signal transduction | Q41606107 | ||
Sequence analysis of the AAA protein family | Q41615832 | ||
Microtubule disassembly by ATP-dependent oligomerization of the AAA enzyme katanin | Q41697683 | ||
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 development | Q47825007 | ||
Axonal Swellings and Degeneration in Mice Lacking the Major Proteolipid of Myelin | Q48004959 | ||
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 locus | Q55670712 | ||
A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2 | Q58328242 | ||
Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease | Q59076132 | ||
Immunocytochemical localization of cell adhesion molecule L1 in developing rat pyramidal tract | Q69683860 | ||
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 | Q71103986 | ||
The rumpshaker mutation in spastic paraplegia | Q71648664 | ||
The phenotype of "pure" autosomal dominant spastic paraplegia | Q72071746 | ||
A clinical and neuroradiological study of X-linked hydrocephalus in Japan | Q72317022 | ||
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p | Q72449258 | ||
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers | Q72530000 | ||
Yta10p is required for the ATP-dependent degradation of polypeptides in the inner membrane of mitochondria | Q72717089 | ||
Assembly of CNS myelin in the absence of proteolipid protein | Q73016640 | ||
P433 | issue | 3 | |
P304 | page(s) | 336-342 | |
P577 | publication date | 2001-06-01 | |
P13046 | publication type of scholarly work | review article | Q7318358 |
P1433 | published in | Current Opinion in Genetics & Development | Q13505684 |
P1476 | title | Molecular basis of inherited spastic paraplegias | |
P478 | volume | 11 |
Q37361462 | A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 |
Q73366589 | A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family |
Q28218618 | A novel mutation in the spastin gene in a family with spastic paraplegia |
Q28594710 | Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport |
Q61925474 | Chapter 16 Overview on Hereditary Spastic Paraplegias |
Q57499026 | Chapter 21 Disease-Modifying Therapies in Motor Neuron Disorders: The Present Position and Potential Future Developments |
Q82029139 | Chapter 5 Cytopathology of the motor neuron |
Q85964898 | Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia |
Q35172288 | Disruption of cellular transport: a common cause of neurodegeneration? |
Q33315299 | Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity |
Q40266306 | Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. |
Q24563811 | Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60 |
Q58923949 | Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives |
Q52609963 | Identification of the Drosophila melanogaster homolog of the human spastin gene |
Q37098009 | Inherited mitochondrial optic neuropathies |
Q34923057 | Is the transportation highway the right road for hereditary spastic paraplegia? |
Q24299953 | Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia |
Q34141153 | Mitochondrial Protein Quality Control Systems in Aging and Disease |
Q37508192 | Phylogeny of proteolipid proteins: divergence, constraints, and the evolution of novel functions in myelination and neuroprotection |
Q33538064 | Role of spastin in apical domain control along the rhabdomere elongation in Drosophila photoreceptor |
Q37763723 | Roles of mitochondria in human disease |
Q24301953 | SPG20 Protein Spartin Associates with Cardiolipin via Its Plant-Related Senescence Domain and Regulates Mitochondrial Ca2+ Homeostasis |
Q21710716 | Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration |
Q48125857 | The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene |
Search more.