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Results: 1 to 20 of 99

1.

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.

Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y.

J Med Genet. 2014 Mar;51(3):203-7. doi: 10.1136/jmedgenet-2013-102156. Epub 2013 Dec 23.

PMID:
24367057
[PubMed - in process]
2.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D.

Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011.

PMID:
23561847
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid BM, Bryceson YT, Nordenskjöld M, Nordgren A.

J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1.

PMID:
23636107
[PubMed - indexed for MEDLINE]
4.

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H.

Epilepsia. 2014 Feb;55(2):e13-7. doi: 10.1111/epi.12508. Epub 2014 Jan 13.

PMID:
24417746
[PubMed - indexed for MEDLINE]
5.

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D.

Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun 7.

PMID:
22683086
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T.

J Biol Chem. 2012 Feb 24;287(9):6318-25. doi: 10.1074/jbc.M111.331090. Epub 2012 Jan 6.

PMID:
22228761
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.

Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.

Neurogenetics. 2014 Aug;15(3):193-200. doi: 10.1007/s10048-014-0408-y. Epub 2014 Jun 8.

PMID:
24906948
[PubMed - in process]
8.

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM.

Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16.

PMID:
24439110
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.

Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4.

PMID:
24706016
[PubMed - indexed for MEDLINE]
10.

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA.

PLoS Genet. 2014 May 1;10(5):e1004320. doi: 10.1371/journal.pgen.1004320. eCollection 2014 May.

PMID:
24784135
[PubMed - in process]
Free PMC Article
11.

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R.

Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008.

PMID:
23561846
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

Ohba C, Okamoto N, Murakami Y, Suzuki Y, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H.

Neurogenetics. 2014 May;15(2):85-92. doi: 10.1007/s10048-013-0384-7. Epub 2013 Nov 20.

PMID:
24253414
[PubMed - in process]
13.

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P.

Am J Med Genet A. 2011 Aug;155A(8):1917-22. doi: 10.1002/ajmg.a.34102. Epub 2011 Jul 7.

PMID:
21739589
[PubMed - indexed for MEDLINE]
14.

Functional analysis of T-cell mutants defective in the biosynthesis of glycosylphosphatidylinositol anchor. Relative importance of glycosylphosphatidylinositol anchor versus N-linked glycosylation in T-cell activation.

Thomas LJ, DeGasperi R, Sugiyama E, Chang HM, Beck PJ, Orlean P, Urakaze M, Kamitani T, Sambrook JF, Warren CD, et al.

J Biol Chem. 1991 Dec 5;266(34):23175-84.

PMID:
1835975
[PubMed - indexed for MEDLINE]
Free Article
15.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L.

J Med Genet. 2011 Jun;48(6):383-9. doi: 10.1136/jmg.2010.087114. Epub 2011 Apr 14.

PMID:
21493957
[PubMed - indexed for MEDLINE]
16.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P.

Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16.

PMID:
24129430
[PubMed - in process]
17.

Biosynthesis and deficiencies of glycosylphosphatidylinositol.

Kinoshita T.

Proc Jpn Acad Ser B Phys Biol Sci. 2014;90(4):130-43.

PMID:
24727937
[PubMed - in process]
Free Article
18.

Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG.

Almeida A, Layton M, Karadimitris A.

Biochim Biophys Acta. 2009 Sep;1792(9):874-80. doi: 10.1016/j.bbadis.2008.12.010. Epub 2009 Jan 9. Review.

PMID:
19168132
[PubMed - indexed for MEDLINE]
Free Article
19.

PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins.

Tashima Y, Taguchi R, Murata C, Ashida H, Kinoshita T, Maeda Y.

Mol Biol Cell. 2006 Mar;17(3):1410-20. Epub 2006 Jan 11.

PMID:
16407401
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p.

Tanaka S, Maeda Y, Tashima Y, Kinoshita T.

J Biol Chem. 2004 Apr 2;279(14):14256-63. Epub 2004 Jan 20.

PMID:
14734546
[PubMed - indexed for MEDLINE]
Free Article

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