PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

(2016) Aideen M. McInerney-Leo et al.   HUMAN MUTATION

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review

(2015) Natario L. Couser et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

APIGNmutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family

(2015) Morad Khayat et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novelPIGNmutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency

(2015) Taku Nakagawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

(2015) Leah Fleming et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

(2014) P.D. Brady et al.   European Journal of Medical Genetics

Engineering the Caenorhabditis elegans genome using Cas9-triggered homologous recombination

(2013) Daniel J Dickinson et al.   NATURE METHODS

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

(2013) Chihiro Ohba et al.   NEUROGENETICS

GPI-anchor synthesis is indispensable for the germline development of the nematode Caenorhabditis elegans

(2012) Daisuke Murata et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Basement membrane sliding and targeted adhesion remodels tissue boundaries during uterine–vulval attachment in Caenorhabditis elegans

(2011) Shinji Ihara et al.   NATURE CELL BIOLOGY

Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress

(2011) Ira Tabas et al.   NATURE CELL BIOLOGY

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

The ALG-2 Binding Site in Sec31A Influences the Retention Kinetics of Sec31A at the Endoplasmic Reticulum Exit Sites as Revealed by Live-Cell Time-Lapse Imaging

(2010) Hideki SHIBATA et al.   BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY

Biosynthesis, Remodelling and Functions of Mammalian GPI-anchored Proteins: Recent Progress

(2008) T. Kinoshita et al.   JOURNAL OF BIOCHEMISTRY