|
Spastic Paraplegia Type 7
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c.1529C > T, p.Ala510Val).
|
27557734 |
2017 |
|
Spastic Paraplegia Type 7
|
0.550 |
PosttranslationalModification
|
disease |
BEFREE |
According to the Ottawa Heart Genomics Study genome-wide association study, a recent research identified that Q688 spastic paraplegia 7 (SPG7) variant is associated with CAD as it bypasses the regulation of tyrosine phosphorylation of AFG3L2 and enhances the processing and maturation of SPG7 protein.
|
27164068 |
2016 |
|
Spastic Paraplegia Type 7
|
0.550 |
Biomarker
|
disease |
BEFREE |
In this large Dutch cohort, we seem to have identified the first genotype-phenotype correlation in spastic paraplegia type 7 by observing an association between the cerebellar phenotype of spastic paraplegia type 7 and SPG7 null alleles.
|
22964162 |
2012 |
|
Spastic Paraplegia Type 7
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7).
|
22022284 |
2011 |
|
Spastic Paraplegia Type 7
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane.
|
18563470 |
2008 |
|
Spastic Paraplegia Type 7
|
0.550 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
|
17646629 |
2007 |
|
Spastic Paraplegia Type 7
|
0.550 |
Biomarker
|
disease |
MGD |
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.
|
14722615 |
2004 |
|
Spastic Paraplegia
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
|
22571692 |
2013 |
|
Spastic Paraplegia
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
The identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent zinc metalloproteases.
|
11549317 |
2001 |
|
Spastic Paraplegia
|
0.430 |
Biomarker
|
disease |
CTD_human |
The identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent zinc metalloproteases.
|
11549317 |
2001 |
|
Spastic Paraplegia
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
|
9635427 |
1998 |
|
Spastic Paraplegia
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Spastic Paraplegia
|
0.430 |
Biomarker
|
disease |
HPO |
|
|
|
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AFG3L2 are associated with dominant spinocerebellar ataxia (SCA28) characterized by the loss of Purkinje cells, whereas mutations in SPG7 cause a recessive form of hereditary spastic paraplegia (HSP7) with motor neurons of the cortico-spinal tract being predominantly affected.
|
29451229 |
2018 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia.
|
30044948 |
2018 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
|
30497413 |
2018 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
|
28362824 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Expanded phenotype in a patient with spastic paraplegia 7.
|
29026558 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic study of hereditary spastic paraplegia in Canada.
|
27957547 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic study of hereditary spastic paraplegia in Canada.
|
27957547 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.
|
29057857 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
|
26756429 |
2016 |
|
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Six Norwegian families with a clinical diagnosis of hereditary spastic paraplegia were diagnosed with SPG7 through Sanger sequencing and whole-exome sequencing.
|
26756429 |
2016 |