Literature DB >> 25823418

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.

C Williams1, Y-H Jiang2,3, V Shashi2, R Crimian2, K Schoch2, A Harper4, D McHale5, D Goldstein6, S Petrovski6,7.   

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Year:  2015        PMID： 25823418     DOI： 10.1111/cge.12581

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Authors:  Thi Tuyet Mai Nguyen; Yoshiko Murakami; Kristen M Wigby; Nissan V Baratang; Justine Rousseau; Anik St-Denis; Jill A Rosenfeld; Stephanie C Laniewski; Julie Jones; Alejandro D Iglesias; Marilyn C Jones; Diane Masser-Frye; Angela E Scheuerle; Denise L Perry; Ryan J Taft; Françoise Le Deist; Miles Thompson; Taroh Kinoshita; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2018-09-27       Impact factor: 11.025

2.  Novel genetic causes for cerebral visual impairment.

Authors:  Daniëlle G M Bosch; F Nienke Boonstra; Nicole de Leeuw; Rolph Pfundt; Willy M Nillesen; Joep de Ligt; Christian Gilissen; Shalini Jhangiani; James R Lupski; Frans P M Cremers; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2015-09-09       Impact factor: 4.246

Review 3.  Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling.

Authors:  Taroh Kinoshita; Morihisa Fujita
Journal:  J Lipid Res       Date:  2015-11-12       Impact factor: 5.922

4.  Characterization of Arabidopsis Post-Glycosylphosphatidylinositol Attachment to Proteins Phospholipase 3 Like Genes.

Authors:  Cesar Bernat-Silvestre; Yingxuan Ma; Kim Johnson; Alejandro Ferrando; Fernando Aniento; María Jesús Marcote
Journal:  Front Plant Sci       Date:  2022-02-11       Impact factor: 5.753

Review 5.  Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.

Authors:  Matthias Kettwig; Orly Elpeleg; Eike Wegener; Steffi Dreha-Kulaczewski; Marco Henneke; Jutta Gärtner; Peter Huppke
Journal:  BMC Neurol       Date:  2016-05-21       Impact factor: 2.474

6.  Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.

Authors:  Justyna Paprocka; Michał Hutny; Jagoda Hofman; Agnieszka Tokarska; Magdalena Kłaniewska; Krzysztof Szczałuba; Agnieszka Stembalska; Aleksandra Jezela-Stanek; Robert Śmigiel
Journal:  Front Neurol       Date:  2022-01-04       Impact factor: 4.003
  6 in total

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