Recombinant Human Paraplegin (SPG7), partial

1. Compound heterozygous variants in SPG7 identified in 22 French Canadian patients with spastic ataxia. PMID: 26626314
2. CACNA1A and SPG7 are major ataxia genes. PMID: 28444220
3. The results of this study showed that the most frequently detected variant in this cohort was the SPG7 p.Leu78. PMID: 27084228
4. A Norwegian founder mutation p.H701P is a major cause of SPG7 in Norway. PMID: 26756429
5. a novel homozygous frameshift deletion in the SPG7 gene was identifies as the genetic cause of hereditary spastic paraplegia in a Greek family. PMID: 26260707
6. this case shows that the spectrum of pathologies in SPG7 can include neuron loss of the dentate nucleus and the inferior olivary nucleus as well as neuritic pathology. PMID: 26506339
7. Data indicates that SPG7 is essential for the mitochondrial permeability transition pore (PTP) complex formation, interacts with CypD and VDAC and determines C terminus of SPG7 and CsA-binding region of CypD as necessary for PTP formation. PMID: 26387735
8. In unexplained ataxia, there was a significant number of patients with SPG7 mutations. PMID: 25681447
9. The SPG7 Q866 variant is efficiently processed independent of phosphorylation of AFG3L2 at Y179, which inhibits processing of SPG7. PMID: 24767997
10. Using an unbiased exome sequencing approach we identified pathogenic compound heterozygous SPG7 mutations in patients with PEO and multiple mitochondrial DNA deletions in skeletal muscle PMID: 24727571
11. A Japanese patient is reported with an SPG7 mutation for a slowly progressive form of autosomal recessive cerebellar ataxia and spastic paraplegia. PMID: 23857099
12. This study showed that the p.Ala510Val mutation is prevalent amongst severe hereditary spastic paraparesis patients of UK. PMID: 23269439
13. Data suggest a pathogenic role for this SPG7 p.A510V variant. PMID: 22571692
14. SPG7 mutations correlate with spastic paraplegia phenotypes. PMID: 22964162
15. SPG7 mutations are a frequent cause of middle-aged onset of spastic gait when strict inclusion criteria are applied and should, therefore, be tested in autosomal recessive or sporadic hereditary spastic paraplegia. PMID: 23065789
16. Studies indicate that both mouse and human SPG7 ESTs containing alternative first exons. PMID: 22563492
17. The novel mutation is the first splice site mutation found in the SPG7 gene. It removes part of the AAA domain of paraplegin protein, probably leading to a loss-of-function of the paraplegin-AFG3L2 complex in the mitochondrial inner membrane. PMID: 20108356
18. structural analysis of the ATPase domain of the human AAA+ protein paraplegin/SPG7 PMID: 19841671
19. Adenoassociated virus-mediated intramuscular delivery of paraplegin halted the progression of neuropathological changes and rescued mitochondrial morphology in the peripheral nerves of paraplegin-deficient mice. PMID: 16357941
20. Cerebellar signs or cerebellar atrophy on brain imaging were the most frequent additional features in patients with SPG7 hereditary spastic paraplegia. PMID: 16534102
21. The new SPG7 gene mutation leads to a novel complicated autosomal recessive hereditary spastic paraparesis phenotype that widens the spectrum of different brain systems that are optionally affected in hereditary spastic paraplegia. PMID: 17646629
22. identification of six novel point mutations and one large intragenic deletion in hereditary spastic paraplegia PMID: 18200586
23. This study identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. PMID: 18563470
24. Results suggest that paraplegin mutations are a frequent cause of sporadic spastic paraparesis. PMID: 18799786
25. An intersubunit signaling network coordinates ATP hydrolysis by m-AAA protease paraplegin. PMID: 19748354

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HGNC: 11237

OMIM: 602783

KEGG: hsa:6687

STRING: 9606.ENSP00000268704

UniGene: Hs.185597