| Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. | Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy.
Ruffo P, De Amicis F, La Bella V, Conforti FL., Free PMC Article | 04/30/2024 |
| LncRNA NIPA1-SO confers atherosclerotic protection by suppressing the transmembrane protein NIPA1. | LncRNA NIPA1-SO confers atherosclerotic protection by suppressing the transmembrane protein NIPA1.
Jiang M, Song Y, Ren MX, He RC, Dong XH, Li XH, Lu ZF, Li S, Wu J, Bei YR, Liu F, Long Y, Wu SG, Liu XH, Wu LM, Yang HL, McVey DG, Dai XY, Ye S, Hu YW., Free PMC Article | 12/5/2023 |
| Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia. | Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Fang SY, Chou YT, Hsu KC, Hsu SL, Yu KW, Tsai YS, Liao YC, Tsai PC, Lee YC., Free PMC Article | 03/17/2023 |
| No role of NIPA1 repeat length as a modifier of the C9orf72 ALS disease risk. | Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.
Corrado L, Brunetti M, Di Pierro A, Barberis M, Croce R, Bersano E, De Marchi F, Zuccalà M, Barizzone N, Calvo A, Moglia C, Mazzini L, Chiò A, D'Alfonso S. | 05/2/2020 |
| There is an evidence for an association of an expanded polyalanine repeat in NIPA1 and ALS. | Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.
Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng HJ, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL, Sproviero W, Iacoangeli A, Hübers A, Brenner D, Morrison KE, Shaw PJ, Shaw CE, Panadés MP, Mora Pardina JS, Glass JD, Hardiman O, Al-Chalabi A, van Damme P, Robberecht W, Landers JE, Ludolph AC, Weishaupt JH, van den Berg LH, Veldink JH, van Es MA, Project MinE ALS Sequencing Consortium., Free PMC Article | 11/30/2019 |
| 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. | SPG6 supports development of acute myeloid leukemia by regulating BMPR2-Smad-Bcl-2/Bcl-xl signaling.
Chen J, Li C, Zhan R, Yin Y. | 10/13/2018 |
| This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. | Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM. | 01/14/2017 |
| NIPA1 repeat expansion in the context of a C9orf72 repeat expansion would drive toward a motor neuron disease phenotype. | Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.
Dekker AM, Seelen M, van Doormaal PT, van Rheenen W, Bothof RJ, van Riessen T, Brands WJ, van der Kooi AJ, de Visser M, Voermans NC, Pasterkamp RJ, Veldink JH, van den Berg LH, van Es MA. | 12/17/2016 |
| We report here a family with a pure form of Hereditary spastic paraplegia due to a de novo transition mutation in the NIPA1 gene. | Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene.
Arkadir D, Noreau A, Goldman JS, Rouleau GA, Alcvalay RN., Free PMC Article | 10/25/2014 |
| 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 | Recurrent de novo c.316G>A mutation in NIPA1 hotspot.
Hedera P. | 09/20/2014 |
| NIPA1 polyalanine repeat expansions are a common risk factor for ALS and modulate disease course | NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH. | 09/22/2012 |
| 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. | NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
Svenstrup K, Møller RS, Christensen J, Budtz-Jørgensen E, Gilling M, Nielsen JE. | 04/7/2012 |
| One heterozygous missense mutation of NIPA1 was identified in a complicated form of hereditary spastic paraplegia type 6 family with peripheral nerves disease | Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.
Du J, Hu YC, Tang BS, Chen C, Luo YY, Zhan ZX, Zhao GH, Jiang H, Xia K, Shen L. | 10/1/2011 |
| a genome-wide association study of amyotrophic lateral sclerosis identified the NIPA1 locus as a candidate for more in-depth studies | A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH, Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH. | 03/5/2011 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH, Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH. | 09/15/2010 |
| The hereditary spastic paraplegia proteins NIPA1, spastin and spartin inhibit BMP signalling by promoting BMP receptors degradation. | The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E., Free PMC Article | 01/21/2010 |
| 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. | Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.
Zhao J, Matthies DS, Botzolakis EJ, Macdonald RL, Blakely RD, Hedera P., Free PMC Article | 01/21/2010 |
| utations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia and further demonstrates genotype-phenotype correlations in SPG6 | Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.
Liu SG, Zhao JJ, Zhuang MY, Li FF, Zhang QJ, Huang SZ, Che FY, Lu DG, Liu SE, Teng JJ, Ma X. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesComprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
Saus E, Brunet A, Armengol L, Alonso P, Crespo JM, Fernández-Aranda F, Guitart M, Martín-Santos R, Menchón JM, Navinés R, Soria V, Torrens M, Urretavizcaya M, Vallès V, Gratacòs M, Estivill X. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome.
DeLuca GC, Ramagopalan SV, Cader MZ, Dyment DA, Herrera BM, Orton S, Degenhardt A, Pugliatti M, Sadovnick AD, Sotgiu S, Ebers GC. | 03/13/2008 |
| Amino acid substitution mutations implicated in a family with autosomal dominant spastic paraplegia. | NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
Klebe S, Lacour A, Durr A, Stojkovic T, Depienne C, Forlani S, Poea-Guyon S, Vuillaume I, Sablonniere B, Vermersch P, Brice A, Stevanin G. | 01/21/2010 |
| discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant hereditary spastic paraplegia | NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK., Free PMC Article | 01/21/2010 |
| located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes | Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD., Free PMC Article | 01/21/2010 |
| 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 | A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.
Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT. | 01/21/2010 |
| quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales | Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.
Bittel DC, Kibiryeva N, Butler MG., Free PMC Article | 01/21/2010 |
| 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 | NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.
Goytain A, Hines RM, El-Husseini A, Quamme GA. | 01/21/2010 |