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Journal of Human Genetics|June 20, 2024
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizuresKenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, et al.
Molecular Therapy. Methods & Clinical Development|January 16, 2024
AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse modelsYoshiko Murakami, Saori Umeshita, Kae Imanishi, et al.
The Journal of Biological Chemistry|March 11, 2010
Controlled expression of branch-forming mannosyltransferase is critical for mycobacterial lipoarabinomannan biosynthesisChubert B C Sena, Takeshi Fukuda, Kana Miyanagi, et al.
Human Mutation|March 25, 2018
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephalyAlistair T Pagnamenta, Yoshiko Murakami, Consuelo Anzilotti, et al.
The FEBS Journal|May 10, 2007
Glycolipids with nonreducing end alpha-mannosyl residues that have the potential to activate invariant Valpha19 NKT cellsMichio Shimamura, Yi-Ying Huang, Naoki Okamoto, et al.
Neurogenetics|November 21, 2013
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophyChihiro Ohba, Nobuhiko Okamoto, Yoshiko Murakami, et al.
American Journal of Medical Genetics. Part A|September 15, 2016
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasiaMax Hogrebe, Yoshiko Murakami, Martin Wild, et al.
Endocrine Journal|March 19, 2011
A case of ACTH-independent macronodular adrenal hyperplasia associated with multiple endocrine neoplasia type 1Masanori Yoshida, Maiko Hiroi, Tsuneo Imai, et al.
Neurogenetics|November 29, 2016
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesiaAna L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, et al.
Journal of Bacteriology|July 21, 2005
An agr-like two-component regulatory system in Lactobacillus plantarum is involved in production of a novel cyclic peptide and regulation of adherenceMark H J Sturme, Jiro Nakayama, Douwe Molenaar, et al.
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