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PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S. Synofzik M, et al. Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19. Brain. 2014. PMID: 24355708 Free PMC article.
Structural analysis indicates that the majority of mutations falls in the C-terminal phospholipid esterase domain and likely inhibits the catalytic activity of PNPLA6, which provides the precursor for biosynthesis of the neurotransmitter acetylcholine. Our findings show th …
Structural analysis indicates that the majority of mutations falls in the C-terminal phospholipid esterase domain and likely inhibits the ca …
Hereditary ataxias and paraparesias: clinical and genetic update.
Parodi L, Coarelli G, Stevanin G, Brice A, Durr A. Parodi L, et al. Curr Opin Neurol. 2018 Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585. Curr Opin Neurol. 2018. PMID: 29847346 Review.
Clear examples are the expanded phenotypes associated with mutations in SPG7, PNPLA6, GBA2, KIF1C, CYP7B1, FA2H, ATP13A2 and many others. Moreover, other genes not previously linked to HCAs and HSPs have been implicated in spastic or ataxic phenotypes. ...
Clear examples are the expanded phenotypes associated with mutations in SPG7, PNPLA6, GBA2, KIF1C, CYP7B1, FA2H, ATP13A2 and many oth …
Roles of NTE protein and encoding gene in development and neurodevelopmental toxicity.
Sogorb MA, Pamies D, Estevan C, Estévez J, Vilanova E. Sogorb MA, et al. Chem Biol Interact. 2016 Nov 25;259(Pt B):352-357. doi: 10.1016/j.cbi.2016.07.030. Epub 2016 Jul 28. Chem Biol Interact. 2016. PMID: 27475862 Review.
Neuropathy Target Esterase (NTE) is a membrane protein codified by gene PNPLA6. NTE was initially discovered as a target of the so-called organophosphorus-induced delayed polyneuropathy triggered by the inhibition of the NTE-associated esterase center by neuropathic …
Neuropathy Target Esterase (NTE) is a membrane protein codified by gene PNPLA6. NTE was initially discovered as a target of the so-ca …
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Schubert SF, Hoffjan S, Dekomien G. Schubert SF, et al. Mol Cell Probes. 2016 Feb;30(1):53-5. doi: 10.1016/j.mcp.2015.12.001. Epub 2015 Dec 20. Mol Cell Probes. 2016. PMID: 26714052
Here, we evaluated the spectrum and frequency of mutations in the CYP7B1, PNPLA6 and C19orf12 genes (causative for the subtypes SPG5A, SPG39 and SPG43, respectively) in a cohort of 63 unrelated HSP patients with suspected autosomal recessive inheritance. ...
Here, we evaluated the spectrum and frequency of mutations in the CYP7B1, PNPLA6 and C19orf12 genes (causative for the subtypes SPG5A …
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.
Viertauer S, Kurth I, Eggermann K, Eggers C. Viertauer S, et al. J Neurol. 2022 Dec;269(12):6476-6482. doi: 10.1007/s00415-022-11313-6. Epub 2022 Aug 10. J Neurol. 2022. PMID: 35947152 Free PMC article.
Genetic analysis revealed two hitherto unknown sequence variants in the PNPLA6 gene, a splice-site variant c.1635 + 3G > T and a missense variant c.3401A > T, p....A paternal uncle being homozygous for the splice-site variant of PNPLA6 presented with increased …
Genetic analysis revealed two hitherto unknown sequence variants in the PNPLA6 gene, a splice-site variant c.1635 + 3G > T and a m …
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA. Wortmann SB, et al. J Inherit Metab Dis. 2015 Jan;38(1):99-110. doi: 10.1007/s10545-014-9759-7. Epub 2014 Sep 2. J Inherit Metab Dis. 2015. PMID: 25178427 Review.
Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital musc …
Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far …
Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype.
Sen K, Finau M, Ghosh P. Sen K, et al. J Neurol. 2020 Sep;267(9):2749-2753. doi: 10.1007/s00415-020-10028-w. Epub 2020 Jul 4. J Neurol. 2020. PMID: 32623594
Testing for known genetic causes of Parkinsonism was negative. The PNPLA6 gene encodes neuropathy target esterase, an enzyme involved in lipid metabolism that is critical to the stability of cell membranes. We hypothesize that the development of Parkinsonism in these patie …
Testing for known genetic causes of Parkinsonism was negative. The PNPLA6 gene encodes neuropathy target esterase, an enzyme involved …
Silencing of PNPLA6, the neuropathy target esterase (NTE) codifying gene, alters neurodifferentiation of human embryonal carcinoma stem cells (NT2).
Pamies D, Bal-Price A, Fabbri M, Gribaldo L, Scelfo B, Harris G, Collotta A, Vilanova E, Sogorb MA. Pamies D, et al. Neuroscience. 2014 Dec 5;281:54-67. doi: 10.1016/j.neuroscience.2014.08.031. Epub 2014 Sep 26. Neuroscience. 2014. PMID: 25255935
Neuropathy target esterase (NTE) is a protein involved in the development of a polyneuropathy caused by exposure to certain organophosphorus compounds. ...PNPLA6 silencing also led to a reduction in electrical activity and an altered neuronal phenotype. ...
Neuropathy target esterase (NTE) is a protein involved in the development of a polyneuropathy caused by exposure to certain organopho …
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
Synofzik M, Schüle R. Synofzik M, et al. Mov Disord. 2017 Mar;32(3):332-345. doi: 10.1002/mds.26944. Epub 2017 Feb 14. Mov Disord. 2017. PMID: 28195350 Free PMC article. Review.
Yet, with the advent of next-generation sequencing, phenotypically unbiased studies have revealed the limitations of this classification system. Various genes (eg, SPG7, SYNE1, PNPLA6) traditionally rooted in either the ataxia or hereditary spastic paraplegia classificatio …
Yet, with the advent of next-generation sequencing, phenotypically unbiased studies have revealed the limitations of this classification sys …
A new PNPLA6 mutation presenting as Oliver McFarlane syndrome.
Patsi O, De Beaufort C, Kerschen P, Cardillo S, Soehn A, Rautenberg M, Diederich NJ. Patsi O, et al. J Neurol Sci. 2018 Sep 15;392:1-2. doi: 10.1016/j.jns.2018.06.016. Epub 2018 Jun 21. J Neurol Sci. 2018. PMID: 30097146 Free article. No abstract available.
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