PMC Links for Nucleotide (Select 82799478) - PMC

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Items: 4

Select item 3020401.

Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2

Reika Watanabe, Yoshiko Murakami, Mina D. Marmor, Norimitsu Inoue, Yusuke Maeda, Jun Hino, Kenji Kangawa, Michael Julius, Taroh Kinoshita

EMBO J. 2000 Aug 15; 19(16): 4402–4411. doi: 10.1093/emboj/19.16.4402

PMCID:: PMC302040

Abstract Article PDF–477K

Select item 69841312.

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

Annalisa Vetro, Tiziana Pisano, Silvia Chiaro, Elena Procopio, Azzurra Guerra, Elena Parrini, Davide Mei, Simona Virdò, Giusi Mangone, Chiara Azzari, Renzo Guerrini

Neurol Genet. 2020 Feb; 6(1): e387. Published online 2020 Jan 2. doi: 10.1212/NXG.0000000000000387

PMCID:: PMC6984131

Abstract Article PDF–702K

Select item 65305253.

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

Martin Krenn, Alexej Knaus, Dominik S. Westphal, Saskia B. Wortmann, Tilman Polster, Friedrich G. Woermann, Michael Karenfort, Ertan Mayatepek, Thomas Meitinger, Matias Wagner, Felix Distelmaier

Ann Clin Transl Neurol. 2019 May; 6(5): 968–973. Published online 2019 Apr 11. doi: 10.1002/acn3.768