Spastic Paraplegia, Hereditary
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
|
30081747 |
2019 |
Spastic Paraplegia, Hereditary
|
0.390 |
Biomarker
|
disease |
BEFREE |
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.
|
30606727 |
2019 |
Spastic Paraplegia, Hereditary
|
0.390 |
Biomarker
|
disease |
BEFREE |
This provides a mechanistic explanation for why mutations in AP-5/SPG11/SPG15 cause cells to accumulate aberrant endolysosomes, and highlights the role of endosome/lysosome dysfunction in the pathology of hereditary spastic paraplegia and other neurodegenerative disorders.
|
29381698 |
2018 |
Spastic Paraplegia, Hereditary
|
0.390 |
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
|
0.390 |
Biomarker
|
disease |
BEFREE |
Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease.
|
26492578 |
2016 |
Spastic Paraplegia, Hereditary
|
0.390 |
Biomarker
|
disease |
MGD |
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.
|
24367272 |
2013 |
Spastic Paraplegia, Hereditary
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)).
|
22554690 |
2012 |
Spastic Paraplegia, Hereditary
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
We studied in more detail the SPG5-related spectrum of complex phenotypes by screening CYPB1 for mutations in a large cohort of 105 Italian hereditary spastic paraplegias (HSPs) index patients including 50 patients with a complicated HSP (cHSP) phenotype overlapping the SPG11- and the SPG15-related forms except for the lack of thin corpus callosum and 55 pure patients.
|
21214876 |
2012 |
Spastic Paraplegia, Hereditary
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
We show that the gene KIAA0415 encodes a putative helicase that interacts with SPG11 and SPG15, two proteins mutated in hereditary spastic paraplegia (HSP).
|
20613862 |
2010 |
Spastic Paraplegia, Hereditary
|
0.390 |
Biomarker
|
disease |
BEFREE |
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
|
19805727 |
2009 |
Spastic Paraplegia, Hereditary
|
0.390 |
GeneticVariation
|
disease |
LHGDN |
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
|
17661097 |
2007 |