Add to ORKGHereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. We found that patients from a chromosome 16q24.3-linked HSP family are homozygous for a 9.5 kb deletion involving a gene encoding a novel protein, named Paraplegin. Two additional Paraplegin mutations, both resulting in a frameshift, were found in a complicated and in a pure form of HSP. Paraplegin is highly homologous to the yeast mitochondrial ATPases, AFG3, RCA1, and YME1, which have both proteolytic and chaperon-like activities at the inner mitochondrial membrane. Immunofluorescence analysis and import experiments showed that Paraplegin localizes to mitochondria. Analysis of muscle bi...
© 2001 by Academic Press. All rights of reproduction in any form reserved.The identification of SPG7...
Mutations in the SPG7 gene, encoding the mitochon-drial protein paraplegin, were the ®rst to be iden...
BACKGROUND: Hereditary spastic paraplegia defines a group of genetically heterogeneous diseases char...
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the l...
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the l...
AbstractHereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity ...
Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an auto...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
<div><p>Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene enco...
Defects in the mitochondrial AAA protease family member, paraplegin, result in an autosomal recessiv...
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a...
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a...
-AAA protease, a high molecular weight complex that resides in the mitochondrial inner membrane, and...
© 2001 by Academic Press. All rights of reproduction in any form reserved.The identification of SPG7...
Mutations in the SPG7 gene, encoding the mitochon-drial protein paraplegin, were the ®rst to be iden...
BACKGROUND: Hereditary spastic paraplegia defines a group of genetically heterogeneous diseases char...
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the l...
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the l...
AbstractHereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity ...
Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an auto...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
<div><p>Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene enco...
Defects in the mitochondrial AAA protease family member, paraplegin, result in an autosomal recessiv...
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a...
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a...
-AAA protease, a high molecular weight complex that resides in the mitochondrial inner membrane, and...
© 2001 by Academic Press. All rights of reproduction in any form reserved.The identification of SPG7...
Mutations in the SPG7 gene, encoding the mitochon-drial protein paraplegin, were the ®rst to be iden...
BACKGROUND: Hereditary spastic paraplegia defines a group of genetically heterogeneous diseases char...