Recombinant Human Magnesium transporter NIPA1 (NIPA1), partial

1. we employed an shRNA-encoding lentivirus system to inhibit SPG6 expression in AML cells including NB4 and MV4-11cells. Knockdown expression of SPG6 resulted in decreased cell growth and elevated apoptosis of these leukemia cells. Notably, SPG6 deficiency resulted in higher BMPR2 expression indicating that BMPR2 signaling contributes to AML pathogenesis. PMID: 29715457
2. This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. PMID: 27084228
3. NIPA1 repeat expansion in the context of a C9orf72 repeat expansion would drive toward a motor neuron disease phenotype. PMID: 26777436
4. We report here a family with a pure form of Hereditary spastic paraplegia due to a de novo transition mutation in the NIPA1 gene. PMID: 25133278
5. study reports direct evidence of de novo c.316G>A mutation in the same hotspot of the gene in two unrelated patients who had otherwise a prototypical NIPA1-associated phenotype with a severe form of uncomplicated spastic paraplegia PMID: 24075313
6. NIPA1 polyalanine repeat expansions are a common risk factor for ALS and modulate disease course PMID: 22378146
7. Epilepsy might be more common in spastic paraplegia type 6 than in other forms of Hereditary spastic paraplegia because of a genetic risk factor closely linked to NIPA1. PMID: 21599812
8. One heterozygous missense mutation of NIPA1 was identified in a complicated form of hereditary spastic paraplegia type 6 family with peripheral nerves disease PMID: 21419568
9. a genome-wide association study of amyotrophic lateral sclerosis identified the NIPA1 locus as a candidate for more in-depth studies PMID: 20685689
10. discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant hereditary spastic paraplegia PMID: 14508710
11. novel missense substitution in a highly conserved NIPA1 residue (G106R) which further confirms a causative link between NIPA1 mutation and autosomal dominant hereditary spastic paraplegia PMID: 15711826
12. NIPA1 normally encodes a Mg2+ transporter and the loss-of function of NIPA1(SPG6) due to abnormal trafficking of the mutated protein provides the basis of the hereditary spastic paraplegia phenotype PMID: 17166836
13. Amino acid substitution mutations implicated in a family with autosomal dominant spastic paraplegia. PMID: 17205300
14. utations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia and further demonstrates genotype-phenotype correlations in SPG6 PMID: 17928003
15. We propose that Hereditary spastic paraplegia-associated mutations in NIPA1 lead to cellular and functional deficits through a gain-of-function mechanism supporting the endoplasmic reticulum accumulation of toxic NIPA1 proteins. PMID: 19091982
16. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin inhibit BMP signalling by promoting BMP receptors degradation. PMID: 19620182

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HGNC: 17043

OMIM: 600363

KEGG: hsa:123606

STRING: 9606.ENSP00000337452

UniGene: Hs.511797