Disease relevance of NIPA1

• NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6) [1].
• This family includes NIPA1, in which a mutation was recently described in a dominant form of spastic paraplegia (SPG6) [2].
• Mutations in NIPA1 (Nonimprinted in Prader-Willi/Angelman syndrome 1) have recently been identified as a cause of autosomal dominant pure HSP, with one mutation described in two unrelated families [3].
• We report a childhood-onset, aggressive, spastic paraparesis in a North American family with a c.316G>A mutation of the NIPA1 gene, confirming c.316 as a mutational hot spot [4].
• The members of NIPA, under the guidance of its Board of Directors, formed RenalCare of Louisiana in order that the nephrologists could take the lead in defining and monitoring the quality of care delivered to ESRD and pre-ESRD patients under an at-risk payment methodology [5].

High impact information on NIPA1

• We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis [1].
• We propose that ichthyin and NIPA1 are membrane receptors for ligands (trioxilins A3 and B3) from the hepoxilin pathway [2].
• We refer to such mismatched haplotypes as noninherited maternal antigens (NIMA haplotype) or noninherited paternal antigens (NIPA haplotype) [6].
• Non-T-cell-depleted bone marrow transplants donated by haploidentical siblings to recipients mismatched for NIPA and transplants donated by parents caused more acute and chronic GVHD and TRM than transplants donated by haploidentical siblings mismatched for NIMA [6].
• A simple three-step preparation of polymer-supported N-(2-iodyl-phenyl)-acylamide (NIPA resin) starting from 2-iodoaniline is described [7].

Biological context of NIPA1

• Here we present a large British pedigree in which linkage analysis conclusively demonstrates linkage to the NIPA1 locus (maximum multipoint LOD score 4.6) [3].
• Data concerning both CTLp frequency and phenotype of effector cells were compared with those obtained stimulating CBMC with cells of paternal origin (NIPA) and adult PBMC with allogeneic targets [8].
• This result could almost be explained only by the binding amount of surfactant onto the NIPA gel regardless of molecular structure of the amino acid [9].

Anatomical context of NIPA1

• Phenotype analysis demonstrated that NIPA elicit the expansion of CD3+/CD8bright T cells, a phenotype associated with alloreactive CTL [8].
• Phenotypic analysis revealed no selective increase in the number of CD3-CD8dim cells (thought to be a NK-like regulator cell) and the number of CD4+CD25+CD152+ cells (naturally occurring regulatory T cells) after stimulation with NIMA-expressing cells when compared with NIPA-expressing cells [10].
• The segregation distortions of SSR markers adjacent to Fsp3, Fsp4, and Fsp5 are in support of male, but not female transmission of the Fsp3, Fsp4, and Fsp5 gametes [11].
• Spinal cord atrophy was more severe in SPG6 and SPG8 HSP subjects than in other types of HSP we studied [12].

Associations of NIPA1 with chemical compounds

• We report that during volume phase transition changes of NMR longitudinal relaxation time T(1), NMR transverse relaxation time T(2), and diffusion coefficient D of the PMMA gel, and D of the NIPA gel [13].
• Copolymerization of NIPA with acrylic acid (AAc) allows the synthesis of both pH and temperature-responsive copolymers [14].

Analytical, diagnostic and therapeutic context of NIPA1

• Included were 121 (45%) NIMA-mismatched and 148 (55%) NIPA-mismatched transplantations [6].
• The aim of this study was to characterize the response of FSP120, which is named FSP-3 in a previous report, to freezing treatment by immunoblotting [15].

References