PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases
Authors
Keywords
-
Journal
Metabolites
Volume 12, Issue 4, Pages 284
Publisher
MDPI AG
Online
2022-03-25
DOI
10.3390/metabo12040284
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature
- (2022) Lorenzo Nanetti et al. Frontiers in Neurology
- Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome
- (2022) Junyu He et al. Frontiers in Genetics
- Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
- (2021) Mustafa Doğan et al. OPHTHALMIC GENETICS
- Morpho-Functional Consequences of Swiss Cheese Knockdown in Glia of Drosophila melanogaster
- (2021) Elena V. Ryabova et al. Cells
- Oliver McFarlane syndrome: two new cases and a review of the literature
- (2021) Kristian Lisbjerg et al. OPHTHALMIC GENETICS
- Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene
- (2021) Sara Locci et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- Loss of swiss cheese in Neurons Contributes to Neurodegeneration with Mitochondria Abnormalities, Reactive Oxygen Species Acceleration and Accumulation of Lipid Droplets in Drosophila Brain
- (2021) Pavel A. Melentev et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- SARM1-mediated wallerian degeneration: A possible mechanism underlying organophosphorus-induced delayed neuropathy
- (2021) Mingxue Song et al. MEDICAL HYPOTHESES
- Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction
- (2021) Pavel A. Melentev et al. Insects
- Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6
- (2020) Fan Liu et al. GENE
- Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype
- (2020) Kuntal Sen et al. JOURNAL OF NEUROLOGY
- A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia
- (2020) Ahmed S. Emekli et al. NEUROLOGICAL SCIENCES
- Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia
- (2019) Erin O’Neil et al. OPHTHALMIC GENETICS
- ER responses play a key role in Swiss-Cheese/Neuropathy Target Esterase-associated neurodegeneration
- (2019) Elizabeth R. Sunderhaus et al. NEUROBIOLOGY OF DISEASE
- Disease-Associated PNPLA6 Mutations Maintain Partial Functions When Analyzed in Drosophila
- (2019) Elizabeth R. Sunderhaus et al. Frontiers in Neuroscience
- Characterization of the Interaction of Neuropathy Target Esterase with the Endoplasmic Reticulum and Lipid Droplets
- (2019) Pingan Chang et al. Biomolecules
- A new PNPLA6 mutation presenting as Oliver McFarlane syndrome
- (2018) O. Patsi et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- The PKA-C3 catalytic subunit is required in two pairs of interneurons for successful mating of Drosophila
- (2018) Marlène Cassar et al. Scientific Reports
- Fat Body Biology in the Last Decade
- (2018) Sheng Li et al. Annual Review of Entomology
- Triacylglycerol Metabolism in Drosophila melanogaster
- (2018) Christoph Heier et al. GENETICS
- Boucher Neuhäuser Syndrome – A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6
- (2017) Jakob H. Langdahl et al. European Journal of Medical Genetics
- NTE/PNPLA6 is expressed in mature Schwann cells and is required for glial ensheathment of Remak fibers
- (2017) Janis McFerrin et al. GLIA
- Roles of NTE protein and encoding gene in development and neurodevelopmental toxicity
- (2016) Miguel A. Sogorb et al. CHEMICO-BIOLOGICAL INTERACTIONS
- Effects of mipafox, paraoxon, chlorpyrifos and its metabolite chlorpyrifos-oxon on the expression of biomarker genes of differentiation in D3 mouse embryonic stem cells
- (2016) Miguel A. Sogorb et al. CHEMICO-BIOLOGICAL INTERACTIONS
- PRKX, a Novel cAMP-Dependent Protein Kinase Member, Plays an Important Role in Development
- (2016) Sizhou Huang et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- Disturbed phospholipid homeostasis in endoplasmic reticulum initiates tri-o-cresyl phosphate-induced delayed neurotoxicity
- (2016) Li Zhu et al. Scientific Reports
- Glial expression of Swiss cheese (SWS), theDrosophilaorthologue of neuropathy target esterase (NTE), is required for neuronal ensheathment and function
- (2015) Sudeshna Dutta et al. Disease Models & Mechanisms
- Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome
- (2015) Kishin Koh et al. JOURNAL OF HUMAN GENETICS
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
- (2015) S. Kmoch et al. Nature Communications
- Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants
- (2015) Alyson Sujkowski et al. PLoS One
- Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome
- (2014) A. Kemal Topaloglu et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
- (2014) Robert B Hufnagel et al. JOURNAL OF MEDICAL GENETICS
- Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature
- (2014) A. A. Tarnutzer et al. JOURNAL OF NEUROLOGY
- Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia
- (2014) A. Deik et al. JOURNAL OF NEUROLOGY
- Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due toPNPLA6mutations: Figure 1
- (2014) Matthis Synofzik et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Silencing of PNPLA6, the neuropathy target esterase (NTE) codifying gene, alters neurodifferentiation of human embryonal carcinoma stem cells (NT2)
- (2014) D. Pamies et al. NEUROSCIENCE
- Organophosphate-Induced Changes in the PKA Regulatory Function of Swiss Cheese/NTE Lead to Behavioral Deficits and Neurodegeneration
- (2014) Jill S. Wentzell et al. PLoS One
- PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
- (2013) Matthis Synofzik et al. BRAIN
- Functional pathways altered after silencing Pnpla6 (the codifying gene of neuropathy target esterase) in mouse embryonic stem cells under differentiation
- (2013) David Pamies et al. IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY-ANIMAL
- Neuronal phospholipid deacylation is essential for axonal and synaptic integrity
- (2012) Paul Glynn BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Mechanisms for consideration for intervention in the development of organophosphorus-induced delayed neuropathy
- (2012) Guilherme L. Emerick et al. CHEMICO-BIOLOGICAL INTERACTIONS
- Neuropathy target esterase (NTE): overview and future
- (2012) Rudy J. Richardson et al. CHEMICO-BIOLOGICAL INTERACTIONS
- Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish
- (2012) Y. Song et al. Disease Models & Mechanisms
- Increased oxidative stress is associated with the development of organophosphate-induced delayed neuropathy
- (2012) A Masoud et al. HUMAN & EXPERIMENTAL TOXICOLOGY
- Involvement of neuropathy target esterase in tri-ortho-cresyl phosphate-induced testicular spermatogenesis failure and growth inhibition of spermatogonial stem cells in mice
- (2012) Jia-Xiang Chen et al. TOXICOLOGY LETTERS
- Expression of Neuropathy Target Esterase in mouse embryonic stem cells during differentiation
- (2010) David Pamies et al. ARCHIVES OF TOXICOLOGY
- Influence of lysophospholipid hydrolysis by the catalytic domain of neuropathy target esterase on the fluidity of bilayer lipid membranes
- (2010) Aaron J. Greiner et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Regulation of neuropathy target esterase by the cAMP/protein kinase A signal
- (2010) Jia-Xiang Chen et al. PHARMACOLOGICAL RESEARCH
- Identification and characterization of chicken neuropathy target esterase
- (2009) Ping-An Chang et al. GENE
- Neuropathy Target Esterase Is Required for Adult Vertebrate Axon Maintenance
- (2009) D. J. Read et al. JOURNAL OF NEUROSCIENCE
- The Homeostasis of Phosphatidylcholine and Lysophosphatidylcholine in Nervous Tissues of Mice was not Disrupted after Administration of Tri-o-cresyl Phosphate
- (2009) Wei-Yuan Hou et al. TOXICOLOGICAL SCIENCES
- Organophosphorus-induced delayed neuropathy: A simple and efficient therapeutic strategy
- (2009) Guilherme L. Emerick et al. TOXICOLOGY LETTERS
- Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
- (2008) Shirley Rainier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions
- (2008) Petra C. Kienesberger et al. JOURNAL OF LIPID RESEARCH
- Swiss Cheese, a Protein Involved in Progressive Neurodegeneration, Acts as a Noncanonical Regulatory Subunit for PKA-C3
- (2008) A. Bettencourt da Cruz et al. JOURNAL OF NEUROSCIENCE
- The homeostasis of phosphatidylcholine and lysophosphatidylcholine was not disrupted during tri-o-cresyl phosphate-induced delayed neurotoxicity in hens
- (2008) Wei-Yuan Hou et al. TOXICOLOGY
- Cellular function of neuropathy target esterase in lysophosphatidylcholine action
- (2008) Sarah C. Vose et al. TOXICOLOGY AND APPLIED PHARMACOLOGY
- Molecular cloning and expression analysis of cDNA ends of chicken neuropathy target esterase
- (2007) Ping-An Chang et al. CHEMICO-BIOLOGICAL INTERACTIONS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now