Spastic Paraplegia, Hereditary
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
In this study, we established in vitro motility assays with purified full-length human KIF1A and found that <i>KIF1A</i> mutations associated with the hereditary SPG lead to hyperactivation of KIF1A motility.
|
31455732 |
2019 |
Spastic Paraplegia, Hereditary
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms.
|
31796088 |
2019 |
Spastic Paraplegia, Hereditary
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Multigeneration family with dominant SPG30 hereditary spastic paraplegia.
|
29159194 |
2017 |
Spastic Paraplegia, Hereditary
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30.
|
28970574 |
2017 |
Spastic Paraplegia, Hereditary
|
0.380 |
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
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system.
|
28834584 |
2017 |
Spastic Paraplegia, Hereditary
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases.
|
28332297 |
2017 |
Spastic Paraplegia, Hereditary
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Therefore, our report contributes to expanding the genotypic and phenotypic spectrum of hereditary spastic paraplegia caused by mutations in KIF1A.
|
27034427 |
2016 |
Spastic Paraplegia, Hereditary
|
0.380 |
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
|
0.380 |
Biomarker
|
disease |
MGD |
|
|
|