"Individual exons encode the integral membrane domains of human myelin proteolipid protein."
Diehl H.-J. , Schaich M. , Budzinski R.-M. , Stoffel W.
Proc. Natl. Acad. Sci. U.S.A.83:9807-9811(1986) [PubMed] [Europe PMC] [Abstract]

"Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence."
Simons R. , Alon N. , Riordan J.R.
Biochem. Biophys. Res. Commun.146:666-671(1987) [PubMed] [Europe PMC] [Abstract]

"Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder."
Hudson L.D. , Puckett C. , Berndt J. , Chan J. , Gencic S.
Proc. Natl. Acad. Sci. U.S.A.86:8128-8131(1989) [PubMed] [Europe PMC] [Abstract]

"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L. , Schick M. , Neubert P. , Schatten R. , Henze S. , Korn B.
Submitted (2004-06) to the EMBL/GenBank/DDBJ databases

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , Hurles M.E. , Andrews T.D. , Scott C.E. , Searle S. , Ramser J. , Whittaker A. , Deadman R. , Carter N.P. , Hunt S.E. , Chen R. , Cree A. , Gunaratne P. , Havlak P. , Hodgson A. , Metzker M.L. , Richards S. , Scott G. , Steffen D. , Sodergren E. , Wheeler D.A. , Worley K.C. , Ainscough R. , Ambrose K.D. , Ansari-Lari M.A. , Aradhya S. , Ashwell R.I. , Babbage A.K. , Bagguley C.L. , Ballabio A. , Banerjee R. , Barker G.E. , Barlow K.F. , Barrett I.P. , Bates K.N. , Beare D.M. , Beasley H. , Beasley O. , Beck A. , Bethel G. , Blechschmidt K. , Brady N. , Bray-Allen S. , Bridgeman A.M. , Brown A.J. , Brown M.J. , Bonnin D. , Bruford E.A. , Buhay C. , Burch P. , Burford D. , Burgess J. , Burrill W. , Burton J. , Bye J.M. , Carder C. , Carrel L. , Chako J. , Chapman J.C. , Chavez D. , Chen E. , Chen G. , Chen Y. , Chen Z. , Chinault C. , Ciccodicola A. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S. , Clerc-Blankenburg K. , Clifford K. , Cobley V. , Cole C.G. , Conquer J.S. , Corby N. , Connor R.E. , David R. , Davies J. , Davis C. , Davis J. , Delgado O. , Deshazo D. , Dhami P. , Ding Y. , Dinh H. , Dodsworth S. , Draper H. , Dugan-Rocha S. , Dunham A. , Dunn M. , Durbin K.J. , Dutta I. , Eades T. , Ellwood M. , Emery-Cohen A. , Errington H. , Evans K.L. , Faulkner L. , Francis F. , Frankland J. , Fraser A.E. , Galgoczy P. , Gilbert J. , Gill R. , Gloeckner G. , Gregory S.G. , Gribble S. , Griffiths C. , Grocock R. , Gu Y. , Gwilliam R. , Hamilton C. , Hart E.A. , Hawes A. , Heath P.D. , Heitmann K. , Hennig S. , Hernandez J. , Hinzmann B. , Ho S. , Hoffs M. , Howden P.J. , Huckle E.J. , Hume J. , Hunt P.J. , Hunt A.R. , Isherwood J. , Jacob L. , Johnson D. , Jones S. , de Jong P.J. , Joseph S.S. , Keenan S. , Kelly S. , Kershaw J.K. , Khan Z. , Kioschis P. , Klages S. , Knights A.J. , Kosiura A. , Kovar-Smith C. , Laird G.K. , Langford C. , Lawlor S. , Leversha M. , Lewis L. , Liu W. , Lloyd C. , Lloyd D.M. , Loulseged H. , Loveland J.E. , Lovell J.D. , Lozado R. , Lu J. , Lyne R. , Ma J. , Maheshwari M. , Matthews L.H. , McDowall J. , McLaren S. , McMurray A. , Meidl P. , Meitinger T. , Milne S. , Miner G. , Mistry S.L. , Morgan M. , Morris S. , Mueller I. , Mullikin J.C. , Nguyen N. , Nordsiek G. , Nyakatura G. , O'dell C.N. , Okwuonu G. , Palmer S. , Pandian R. , Parker D. , Parrish J. , Pasternak S. , Patel D. , Pearce A.V. , Pearson D.M. , Pelan S.E. , Perez L. , Porter K.M. , Ramsey Y. , Reichwald K. , Rhodes S. , Ridler K.A. , Schlessinger D. , Schueler M.G. , Sehra H.K. , Shaw-Smith C. , Shen H. , Sheridan E.M. , Shownkeen R. , Skuce C.D. , Smith M.L. , Sotheran E.C. , Steingruber H.E. , Steward C.A. , Storey R. , Swann R.M. , Swarbreck D. , Tabor P.E. , Taudien S. , Taylor T. , Teague B. , Thomas K. , Thorpe A. , Timms K. , Tracey A. , Trevanion S. , Tromans A.C. , d'Urso M. , Verduzco D. , Villasana D. , Waldron L. , Wall M. , Wang Q. , Warren J. , Warry G.L. , Wei X. , West A. , Whitehead S.L. , Whiteley M.N. , Wilkinson J.E. , Willey D.L. , Williams G. , Williams L. , Williamson A. , Williamson H. , Wilming L. , Woodmansey R.L. , Wray P.W. , Yen J. , Zhang J. , Zhou J. , Zoghbi H. , Zorilla S. , Buck D. , Reinhardt R. , Poustka A. , Rosenthal A. , Lehrach H. , Meindl A. , Minx P.J. , Hillier L.W. , Willard H.F. , Wilson R.K. , Waterston R.H. , Rice C.M. , Vaudin M. , Coulson A. , Nelson D.L. , Weinstock G. , Sulston J.E. , Durbin R.M. , Hubbard T. , Gibbs R.A. , Beck S. , Rogers J. , Bentley D.R. more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Amino-acid sequence of human and bovine brain myelin proteolipid protein (lipophilin) is completely conserved."
Stoffel W. , Giersiefen H. , Hillen H. , Schroeder W. , Tunggal B.
Biol. Chem. Hoppe-Seyler366:627-635(1985) [PubMed] [Europe PMC] [Abstract]

"Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA."
Kronquist K.E. , Crandall B.F. , Macklin W.B. , Campagnoni A.T.
J. Neurosci. Res.18:395-401(1987) [PubMed] [Europe PMC] [Abstract]

"Major myelin proteolipid: the 4-alpha-helix topology."
Popot J.-L. , Pham-Dinh D. , Dautigny A.
J. Membr. Biol.120:233-246(1991) [PubMed] [Europe PMC] [Abstract]

"Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein."
Gencic S. , Abuelo D. , Ambler M. , Hudson L.D.
Am. J. Hum. Genet.45:435-442(1989) [PubMed] [Europe PMC] [Abstract]

"Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant."
Trofatter J. , Dlouhy S.R. , Demyer W. , Conneally P.M. , Hodes M.E.
Proc. Natl. Acad. Sci. U.S.A.86:9427-9430(1989) [PubMed] [Europe PMC] [Abstract]

"A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis."
Weimbs T. , Dick T. , Stoffel W. , Boltshauser E.
Biol. Chem. Hoppe-Seyler371:1175-1183(1990) [PubMed] [Europe PMC] [Abstract]

"A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease."
Pratt V.M. , Trofatter J.A. , Schinzel A. , Dlouhy S.R. , Conneally P.M. , Hodes M.E.
Am. J. Med. Genet.38:136-139(1991) [PubMed] [Europe PMC] [Abstract]

"Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid."
Pham-Dinh D. , Popot J.-L. , Bosepflug-Tanguy O. , Landrieu P. , Deleuze P. , Boue J. , Jolles P. , Dautigny A.
Proc. Natl. Acad. Sci. U.S.A.88:7562-7566(1991) [PubMed] [Europe PMC] [Abstract]

"Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease."
Doll R. , Natowicz M.R. , Schiffmann R. , Smith F.I.
Am. J. Hum. Genet.51:161-169(1992) [PubMed] [Europe PMC] [Abstract]

"Pelizaeus-Merzbacher disease: detection of mutations Thr181-->Pro and Leu223-->Pro in the proteolipid protein gene, and prenatal diagnosis."
Strautnieks S. , Rutland P. , Winter R.M. , Baraitser M. , Malcolm S.
Am. J. Hum. Genet.51:871-878(1992) [PubMed] [Europe PMC] [Abstract]

"Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred."
Pratt V.M. , Kiefer J.R. , Lahdetie J. , Schleutker J. , Hodes M.E. , Dlouhy S.R.
Am. J. Hum. Genet.52:1053-1056(1993) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease."
Otterbach B. , Stoffel W. , Ramaekers V.
Biol. Chem. Hoppe-Seyler374:75-83(1993) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family."
Iwaki A. , Muramoto T. , Iwaki I. , Furumi H. , Dario-Deleon M.L. , Tateishi J. , Fukumaki Y.
Hum. Mol. Genet.2:19-22(1993) [PubMed] [Europe PMC] [Abstract]

"Comparison of statistics for candidate-gene association studies using cases and parents."
Pratt V.M. , Boyadjiev S. , Dlouhy S.R. , Silver K. , der Kaloustian V.M. , Hodes M.E.
Am. J. Hum. Genet.55:402-409(1994) [PubMed] [Europe PMC] [Abstract]

"X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus."
Saugier-Veber P. , Munnich A. , Bonneau D. , Rozet J.-M. , le Merrer M. , Gil R. , Boespflug-Tanguy O.
Nat. Genet.6:257-262(1994) [PubMed] [Europe PMC] [Abstract]

"The rumpshaker mutation in spastic paraplegia."
Kobayashi H. , Hoffman E.P. , Marks H.G.
Nat. Genet.7:351-352(1994) [PubMed] [Europe PMC] [Abstract]

"In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease."
Kleindorfer D.O. , Dlouhy S.R. , Pratt V.M. , Jones M.C. , Trofatter J.A. , Hodes M.E.
Am. J. Med. Genet.55:405-407(1995) [PubMed] [Europe PMC] [Abstract]

"Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus."
Pratt V.M. , Boyadjiev S. , Green K. , Hodes M.E. , Dlouhy S.R.
Am. J. Med. Genet.58:70-73(1995) [PubMed] [Europe PMC] [Abstract]

"Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene."
Pratt V.M. , Dlouhy S.R. , Hodes M.E.
Clin. Genet.47:99-100(1995) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease."
Pratt V.M. , Naidu S. , Dlouhy S.R. , Marks H.G. , Hodes M.E.
Neurology45:394-395(1995) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia."
Donnelly A. , Colley A. , Crimmins D. , Mulley J.
Hum. Mutat.8:384-385(1996) [PubMed] [Europe PMC] [Abstract]

"Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia."
Cambi F. , Tang X.M. , Cordray P. , Fain P.R. , Keppen L.D. , Barker D.F.
Neurology46:1112-1117(1996) [PubMed] [Europe PMC] [Abstract]

"Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease."
Nance M.A. , Boyadjiev S. , Pratt V.M. , Taylor S. , Hodes M.E. , Dlouhy S.R.
Neurology47:1333-1335(1996) [PubMed] [Europe PMC] [Abstract]

"A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease."
Kawanishi C. , Osaka H. , Owa K. , Inoue K. , Miyakawa T. , Onishi H. , Yamada Y. , Suzuki K. , Kimura S. , Kosaka K.
Hum. Mutat.9:475-476(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease."
Inoue K. , Osaka H. , Kawanishi C. , Sugiyama N. , Ishii M. , Sugita K. , Yamada Y. , Kosaka K.
Neurology48:283-285(1997) [PubMed] [Europe PMC] [Abstract]

"Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease."
Yamamoto T. , Nanba E. , Zhang H. , Sasaki M. , Komaki H. , Takeshita K.
Am. J. Med. Genet.75:439-440(1998) [PubMed] [Europe PMC] [Abstract]

"X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)."
Hodes M.E. , Hadjisavvas A. , Butler I.J. , Aydanian A. , Dlouhy S.R.
Am. J. Med. Genet.75:516-517(1998) [PubMed] [Europe PMC] [Abstract]

"A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease."
Hodes M.E. , Aydanian A. , Dlouhy S.R. , Whelan D.T. , Heshka T. , Ronen G.
Clin. Genet.54:248-249(1998) [PubMed] [Europe PMC] [Abstract]

"Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein 'PLP' gene."
Nagao M. , Kadowaki J.
J. Hum. Genet.43:206-208(1998) [PubMed] [Europe PMC] [Abstract]

"Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease."
Sistermans E.A. , de Coo R.F.M. , De Wijs I.J. , Van Oost B.A.
Neurology50:1749-1754(1998) [PubMed] [Europe PMC] [Abstract]

"Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not."
Mimault C. , Giraud G. , Courtois V. , Cailloux F. , Boire J.Y. , Dastugue B. , Boespflug-Tanguy O. , Baethmann M. , Bertini E. , Cuisset J.M. , Gaertner J. , Hanefeld F. , Kohlschutter A. , Landrieu P. , Mayer M. , Peudenier S. , Rodriguez D. , Rating D. , Surtees R. , Uziel G. , Vallee L. , Voit T. more...
Am. J. Hum. Genet.65:360-369(1999) [PubMed] [Europe PMC] [Abstract]

"Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)."
Hodes M.E. , Zimmerman A.W. , Aydanian A. , Naidu S. , Miller N.R. , Garcia Oller J.L. , Barker B. , Aleck K.A. , Hurley T.D. , Dlouhy S.R.
Am. J. Med. Genet.82:132-139(1999) [PubMed] [Europe PMC] [Abstract]

"Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity."
Osaka H. , Kawanishi C. , Inoue K. , Onishi H. , Kobayashi T. , Sugiyama N. , Kosaka K. , Nezu A. , Fujii K. , Sugita K. , Kodama K. , Murayama K. , Murayama S. , Kanazawa I. , Kimura S.
Ann. Neurol.45:59-64(1999) [PubMed] [Europe PMC] [Abstract]

"Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members."
Sivakumar K. , Sambuughin N. , Selenge B. , Nagle J.W. , Baasanjav D. , Hudson L.D. , Goldfarb L.G.
Ann. Neurol.45:680-683(1999) [PubMed] [Europe PMC] [Abstract]

"A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease."
Yamamoto T. , Nanba E.
Hum. Mutat.14:182-182(1999) [PubMed] [Europe PMC] [Abstract]

"Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations."
Cailloux F. , Gauthier-Barichard F. , Mimault C. , Isabelle V. , Courtois V. , Giraud G. , Dastugue B. , Boespflug-Tanguy O. , Baethmann M. , Bertini E. , Cuisset J.M. , Gaertner J. , Hanefeld F. , Kohlschutter A. , Landrieu P. , Mayer M. , Peudenier S. , Rodriguez D. , Rating D. , Surtees R. , Uziel G. , Vallee L. , Voit T. more...
Eur. J. Hum. Genet.8:837-845(2000) [PubMed] [Europe PMC] [Abstract]

"A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene."
Seeman P. , Paderova K. , Benes V. Jr. , Sistermans E.A.
Int. J. Mol. Med.9:125-129(2002) [PubMed] [Europe PMC] [Abstract]

"A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene."
Lee E.S. , Moon H.K. , Park Y.H. , Garbern J. , Hobson G.M.
J. Neurol. Sci.224:83-87(2004) [PubMed] [Europe PMC] [Abstract]

"Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease."
Huebner C.A. , Orth U. , Senning A. , Steglich C. , Kohlschuetter A. , Korinthenberg R. , Gal A.
Hum. Mutat.25:321-322(2005) [PubMed] [Europe PMC] [Abstract]

"Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation."
Gorman M.P. , Golomb M.R. , Walsh L.E. , Hobson G.M. , Garbern J.Y. , Kinkel R.P. , Darras B.T. , Urion D.K. , Eksioglu Y.Z.
Neurology68:1305-1307(2007) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2."
Noetzli L. , Sanz P.G. , Brodsky G.L. , Hinckley J.D. , Giugni J.C. , Giannaula R.J. , Gonzalez-Alegre P. , Di Paola J.
Gene533:447-450(2014) [PubMed] [Europe PMC] [Abstract]