Spastic Paraplegia 11 (Autosomal Recessive) (SPG11) Kits ELISA

The protein encoded by SPG11 is a potential transmembrane protein that is phosphorylated upon DNA damage. De plus, nous expédions SPG11 Anticorps (21) et et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
SPG11 214585 Q3UHA3
SPG11 80208 Q96JI7
Anti-Rat SPG11 SPG11 311372  
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Catalogue No. Reactivité Sensibilité Gamme Images Quantité Livraison Prix Détails
Humain
  96 Tests 15 to 18 Days
$875.60
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Souris
  96 Tests 15 to 18 Days
$875.60
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Plus Kits ELISA pour SPG11 partenaires d'interaction

Mouse (Murine) Spastic Paraplegia 11 (Autosomal Recessive) (SPG11) interaction partners

  1. Spg11 knockout mice developed early-onset motor impairment and cognitive deficits. These behavioral deficits were associated with progressive brain atrophy with the loss of neurons in the brain, as well as with accumulation of dystrophic axons in the corticospinal tract. Spinal motor neurons also degenerated and this was accompanied by fragmentation of neuromuscular junctions and muscle atrophy.

  2. Study provides evidence that SPG11 is implicated in axonal maintenance and cargo trafficking.

Human Spastic Paraplegia 11 (Autosomal Recessive) (SPG11) interaction partners

  1. Whereas, a previously reported variant c.5769delT (p.Ser1923Argfs*28) in the SPG11 gene was identified in family B manifesting clinical features of SPG11 in 3 affected individuals

  2. Compound heterozygous mutations of the SPG11 gene were identified in the index patient and her younger brother, while the parents were carriers

  3. SPG11-related hereditary spastic paraplegia is characterized by selective neuronal vulnerability, in which a precocious and widespread white matter involvement is later followed by a restricted but clearly progressive grey matter degeneration.

  4. increased levels of homocarnosine do not seem to be a biomarker for SPG11 in our patients

  5. SPG11 was suspected to be the most common subtype of autosomal recessive hereditary spastic paraplegia in China, whereas SPG15, SPG5 or SPG7 are rare. The core symptoms of Chinese SPG11 patients showed no difference when compared to SPG11 in western countries, and clinical heterogeneity also existed in our SPG11 patients.

  6. Screening of large cohorts of hereditary spastic paraplegia (HSP) patients identified 83 alleles with "small" mutations and 13 alleles with large genomic rearrangements. These findings widen the spectra of mutations and mutational mechanisms in SPG11, underscore the pivotal role played by Alu elements, and are of high diagnostic relevance for a wide spectrum of clinical phenotypes including the most frequent form of HSP.

  7. These hereditary spastic paraplegia patients are compound heterozygous for variants in the SPG11 gene, including the paternally inherited c.6856C>T (p.Arg2286 *) variant and the novel maternally inherited c.2316+5G>A splice-donor region variant.

  8. SPG11 and CYP7B1 were the most common cause of autosomal recessive hereditary spastic paraplegia in Greece. A novel variant in SPG11, which led to disease with later onset was identified in the Greek population.

  9. SPG11 defects were found to be by far the commonest cause of complex hereditary spastic paraplegia in the UK, accounting for 30.9% of cases.

  10. This study identified novel compound heterozygous mutations in SPG11 in a complex hereditary spastic paraplegia family with thin corpus callosum and severe axonal sensory-motor polyneuropathy as a late manifestation of the disease.

  11. We identified two novel compound heterozygous mutations in SPG11 in 2 affected individuals with autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum

  12. a novel homozygous mutation in the splice site donor of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia (whole-exome sequencing)

  13. SPG11 is the causative gene of a wide spectrum of clinical features, including autosomal recessive axonal Charcot-Marie-Tooth disease. 1

  14. novel compound heterozygous mutations in SPG11 are associated with HSP and lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum

  15. SPG11 mutation has been identified in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.

  16. spastizin and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration.

  17. Study provides evidence that SPG11 is implicated in axonal maintenance and cargo trafficking.

  18. A novel homozygous nonsense mutation in exon 15 of the SPG11 gene (c.2678G>A; p.W893X) found in two Spanish siblings with a complicated forms of hereditary spastic paraplegia.

  19. widespread accumulation of spatacsin observed in pathologic alpha-synuclein-containing inclusions suggests that spatacsin may be involved in the pathogenesis of alpha-synucleinopathies

  20. We have identified an Hereditary spastic paraplegia patient who inherited the c.5121_5122insAG mutation from his mother and the c.6859C>T mutation from his father

SPG11 profil antigène

Antigen Summary

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene.

Gene names and symbols associated with SPG11

  • SPG11, spatacsin vesicle trafficking associated (Spg11) anticorps
  • SPG11, spatacsin vesicle trafficking associated (SPG11) anticorps
  • 6030465E24Rik anticorps
  • A330015I11 anticorps
  • C530005A01Rik anticorps
  • KIAA1840 anticorps
  • RGD1562529 anticorps

Protein level used designations for SPG11

spastic paraplegia 11 protein homolog , spatacsin , colorectal carcinoma-associated protein , spastic paraplegia 11 protein

GENE ID SPECIES
214585 Mus musculus
80208 Homo sapiens
311372 Rattus norvegicus
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