|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
Hereditary sensory and autonomic neuropathy type I (HSAN-1) is an autosomal dominant sensory neuropathy occurring secondary to mutations in the SPTLC1 and SPTLC2 genes.
|
30866134 |
2019 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
Biomarker
|
disease |
BEFREE |
Protective CD8<sup>+</sup> T cell responses in HSAN-I patient PBMCs and Sptlc2-deficient mice were restored by supplementing with sphingolipids and pharmacologically inhibiting ER stress-induced cell death.
|
30952607 |
2019 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is a rare autosomal dominant inherited peripheral neuropathy caused by mutations in the SPTLC1 and SPTLC2 subunits of serine palmitoyltransferase (SPT).
|
26681808 |
2016 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is a rare autosomal dominant inherited peripheral neuropathy caused by mutations in the SPTLC1 and SPTLC2 subunits of serine palmitoyltransferase (SPT).
|
26681808 |
2016 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a novel SPTLC2-S384F variant in two unrelated HSAN1 families.
|
25567748 |
2015 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This study confirms that mutations in SPTLC2 are associated with increased deoxySL formation causing HSANI.
|
23658386 |
2013 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
The three human hLCB2a HSAN1 mutations map onto Sp SPT (V246M, G268V, and G385F), and these mutant mimics reveal that the amino acid changes have varying impacts; they perturb the PLP cofactor binding, reduce the affinity for both substrates, decrease the enzyme activity, and, in the most severe case, cause the protein to be expressed in an insoluble form.
|
24175284 |
2013 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
This study confirms that mutations in SPTLC2 are associated with increased deoxySL formation causing HSANI.
|
23658386 |
2013 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
These results confirm that the increased formation of deoxysphingoid bases is a key feature for HSAN-I as it is associated with all pathogenic SPTLC1 and SPTLC2 mutations reported so far, but also warrant for caution in the interpretation of in vitro data.
|
21618344 |
2011 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
No mutations were found in SPTLC3, but we identified three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families presenting with a typical HSAN-I phenotype.
|
20920666 |
2010 |
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
0.580 |
GermlineCausalMutation
|
disease |
ORPHANET |
No mutations were found in SPTLC3, but we identified three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families presenting with a typical HSAN-I phenotype.
|
20920666 |
2010 |