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NameNeuropathy target esterase
Synonyms
  • 3.1.1.5
  • NTE
  • Patatin-like phospholipase domain-containing protein 6
Gene NamePNPLA6
OrganismHuman
Amino acid sequence
>lcl|BSEQ0008976|Neuropathy target esterase
MGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLGVMIGAGVAV
VVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSA
TSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYM
LKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLLELCLPGPDG
KECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEAFSAVFTKYP
ESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTRTSPVRGSKR
MVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQ
GGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATG
GCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIARQGDQDVSL
HFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQRDCTFLRISK
SDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQGDRSDCTYIV
LNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTELAKLPEGTLG
HIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPASNLATVAILP
VCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSGWLAQQEDAH
RIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRALKQLVLLHR
EEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSR
LARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSA
SRTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIEDLWLPYFNV
TTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINNLPADIARSM
GAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQSRLAYVSCV
RQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTD
RRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAG
PDCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA
Number of residues1366
Molecular Weight149993.285
Theoretical pINot Available
GO Classification
Functions
  • lysophospholipase activity
Processes
  • angiogenesis
  • organ morphogenesis
  • lipid catabolic process
  • developmental process
  • phosphatidylcholine metabolic process
Components
  • membrane
  • endoplasmic reticulum
  • endoplasmic reticulum membrane
  • integral component of membrane
General FunctionLysophospholipase activity
Specific FunctionPhospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.
Pfam Domain Function
Transmembrane Regions51-71
GenBank Protein IDNot Available
UniProtKB IDQ8IY17
UniProtKB Entry NamePLPL6_HUMAN
Cellular LocationEndoplasmic reticulum membrane
Gene sequence
>lcl|BSEQ0013542|Neuropathy target esterase (PNPLA6)
ATGGAGGCTCCGCTGCAAACTGGAATGATGGGGACATCGAGTCACGGGCTGGCTACGAAC
TCCTCGGGGGCGAAGGTGGCGGAGAGGGATGGGTTCCAGGACGTCCTGGCGCCCGGGGAA
GGCTCGGCGGGACGGATTTGCGGTGCGCAGCCAGTGCCGTTCGTCCCTCAGGTGCTTGGC
GTGATGATCGGGGCCGGAGTGGCGGTGGTGGTCACGGCCGTGCTCATCCTCCTGGTGGTG
CGGAGGCTGCGAGTGCCAAAAACCCCAGCCCCGGATGGCCCCCGGTATCGGTTCCGGAAG
AGGGACAAAGTGCTCTTCTATGGCCGGAAGATTATGCGGAAGGTGTCACAATCCACCTCC
TCCCTCGTGGATACCTCTGTCTCCGCCACCTCCCGGCCACGCATGAGGAAGAAACTGAAG
ATGCTCAACATTGCCAAGAAGATCCTGCGCATCCAGAAAGAGACGCCCACGCTGCAGCGG
AAGGAGCCCCCGCCCGCAGTGCTAGAAGCTGACCTGACCGAGGGCGACCTGGCTAACTCC
CATCTGCCCTCTGAAGTGCTTTATATGCTCAAGAACGTCCGGGTGCTGGGCCACTTCGAG
AAGCCACTCTTCCTGGAGCTCTGCCGCCACATGGTCTTCCAGCGGCTGGGCCAGGGTGAC
TACGTCTTCCGGCCGGGCCAGCCAGATGCCAGCATCTACGTGGTGCAGGACGGGCTGCTG
GAGCTCTGTCTGCCAGGGCCTGACGGGAAGGAGTGTGTGGTGAAGGAAGTGGTTCCTGGG
GACAGCGTCAACAGCCTTCTCAGCATCCTGGATGTCATCACCGGTCACCAGCATCCCCAG
CGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCA
TTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGATCATCATG
GTGCGGCTGCAGCGAGTCACCTTCCTGGCACTGCACAACTACCTGGGTCTGACCAATGAG
CTCTTCAGCCACGAGATCCAGCCCCTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGC
ACCAGCCCTGTGCGGGGCTCCAAGAGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGG
GAGACCCCAGGGCGGCCACCCGATCCCACCGGGGCCCCGCTGCCTGGACCTACAGGGGAC
CCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCC
ATGCCAGGGGACATCTCAGGCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTAT
GAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCC
CCCGCTCGGACCCCCACTCAGGAGCCTCGTGAGCAGCCGGCAGGCGCCTGTGAATACAGC
TACTGTGAGGATGAGTCGGCCACTGGTGGCTGCCCTTTCGGGCCCTACCAGGGCCGCCAG
ACCAGCAGCATCTTCGAGGCAGCAAAGCAGGAGCTGGCCAAGCTGATGCGGATTGAGGAC
CCCTCCCTCCTGAACAGCAGAGTCTTGCTGCACCACGCCAAAGCTGGCACCATCATTGCC
CGCCAGGGAGACCAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTAC
CAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTG
GTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGC
GACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGATCATGCGCGCACAGCCC
AGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAG
ATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGCAGGGC
GACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGA
GGCAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTG
GAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTG
GCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGCAGGTCGTGACC
CGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCC
TTCCCAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGC
AACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACG
CTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCCGACGCTACTCCTTAACAGTGACATC
ATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGCATCCAAGAGTTCCGGCTGTCAGGG
TGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTG
ACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGG
GACCAGGAGCCTACCCTCGGCCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCC
CTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAG
TGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTC
TTTTCGCGCCGCAGCCCTGCCAAGCTGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGC
GCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCC
CTTGTGCTAGGCGGGGGCGGGGCCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTA
GAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGA
GCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCC
AAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATG
TTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAG
GACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTC
CACAAAGATGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTG
CCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAAT
CTGCCAGCGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGG
AGCCAGGATGAGACGGACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTG
TGGAAGCGGCTGAATCCCTGGGCTGACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAG
TCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTAC
TGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGAC
CAGATCTATGATGTGGGCTACCAGTACGGGAAGGCGGTGTTTGGAGGCTGGAGCCGTGGC
AACGTCATTGAGAAAATGCTCACAGACCGGCGGTCTACAGACCTTAATGAGAGCCGCCGT
GCAGACGTGCTTGCCTTCCCAAGCTCTGGCTTCACTGACTTGGCAGAGATTGTGTCCCGG
ATTGAGCCCCCCACGAGCTATGTCTCTGATGGCTGTGCTGACGGAGAGGAGTCAGATTGT
CTGACAGAGTATGAGGAGGACGCCGGACCCGACTGCTCGAGGGATGAAGGGGGGTCCCCC
GAGGGCGCAAGCCCCAGCACTGCCTCCGAGATGGAGGAGGAGAAGTCGATTCTCCGGCAA
CGACGCTGTCTGCCCCAGGAGCCGCCCGGCTCAGCCACAGATGCCTGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:16268
Chromosome Location19
LocusNot Available
References
  1. Lush MJ, Li Y, Read DJ, Willis AC, Glynn P: Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein contain a novel domain conserved from bacteria to man. Biochem J. 1998 May 15;332 ( Pt 1):1-4. 9576844
  2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
  3. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. 15057824
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  5. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. 17974005
  6. Lotti M: The pathogenesis of organophosphate polyneuropathy. Crit Rev Toxicol. 1991;21(6):465-87. 1666291
  7. Zaccheo O, Dinsdale D, Meacock PA, Glynn P: Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells. J Biol Chem. 2004 Jun 4;279(23):24024-33. Epub 2004 Mar 25. 15044461
  8. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. doi: 10.1016/j.molcel.2008.07.007. 18691976
  9. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. 18669648
  10. Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal. 2010 Jan 12;3(104):ra3. doi: 10.1126/scisignal.2000475. 20068231
  11. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  12. Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR: Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. J Clin Endocrinol Metab. 2014 Oct;99(10):E2067-75. doi: 10.1210/jc.2014-1836. Epub 2014 Jul 17. 25033069
  13. Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK: Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet. 2008 Mar;82(3):780-5. doi: 10.1016/j.ajhg.2007.12.018. Epub 2008 Feb 28. 18313024
  14. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  15. Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM: Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. 25480986
  16. Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S: PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19. 24355708