Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Deletion of ATL results in long unbranched ER tubules in cells, and mutation of human ATL1 is linked to hereditary spastic paraplegia.
|
31239341 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
|
31594988 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutant alleles of Atlastin-1 found in Hereditary Spastic Paraplegia (HSP) patients show similar ER phenotypes, suggesting that neuronal ER impairment contributes to HSP disease pathogenesis.
|
30718476 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
|
29691679 |
2018 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
When ATL function is compromised, the morphology of the endoplasmic reticulum deteriorates, and these defects can result in neurological disorders such as hereditary spastic paraplegia and hereditary sensory neuropathy.
|
29180453 |
2018 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.
|
28736820 |
2017 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Depletion of or mutations in ATL cause an unbranched ER morphology and hereditary spastic paraplegia (HSP), a neurodegenerative disease characterized by axon shortening in corticospinal motor neurons and progressive spasticity of the lower limbs.
|
28240257 |
2017 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
|
26888483 |
2016 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins.
|
27638887 |
2016 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
|
26208798 |
2015 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
At least 38 distinct missense mutations in the neuronal atlastin1/SPG3A GTPase are implicated in an autosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder manifested by lower limb weakness and spasticity and length-dependent axonopathy of corticospinal motor neurons.
|
25761634 |
2015 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
|
25454648 |
2014 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
The SPG3A axon growth defects could be rescued with microtubule-binding agents, emphasizing the importance of tubular ER interactions with the microtubule cytoskeleton in hereditary spastic paraplegia pathogenesis.
|
24908668 |
2014 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.
|
23079343 |
2013 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.
|
23233086 |
2013 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We detected a missense mutation (c.1065C>A, p.Asn355Lys) in atlastin-1 (ATL1), a gene that is known to be mutated in early-onset hereditary spastic paraplegia SPG3A and that encodes the large dynamin-related GTPase atlastin-1.
|
21194679 |
2011 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations spread across atlastin isoform 1 (atlastin-1) have been identified in patients suffering from hereditary spastic paraplegia (HSP), a neurodegenerative disorder affecting motor neuron function in the lower extremities.
|
21220294 |
2011 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
|
20932283 |
2010 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
|
19423133 |
2009 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
About 40% of cases of hereditary spastic paraplegia are due to mutations in SPG4 encoding for spastin, while 10% are due to mutations in SPG3A encoding for atlastin.
|
19494379 |
2009 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia 4, autosomal dominant (SPG4, MIM#182601) and spastic paraplegia 3, autosomal dominant (SPG3A, MIM#182600), account for most autosomal dominant hereditary spastic paraplegias.
|
19652243 |
2009 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.
|
19085270 |
2008 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP).
|
18644145 |
2008 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
|
17380240 |
2007 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
|
17502470 |
2007 |