CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model

Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival

(2019) Marshall Lukacs et al.   eLife

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

(2018) Alexej Knaus et al.   Genome Medicine

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

(2018) Thi Tuyet Mai Nguyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

(2018) Kara Bellai-Dussault et al.   CLINICAL GENETICS

Modeling Congenital Disorders of N-Linked Glycoprotein Glycosylation in Drosophila melanogaster

(2018) Anna Frappaolo et al.   Frontiers in Genetics

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

(2017) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model

(2017) Xuan Yuan et al.   PLoS One

Neural Glycosylphosphatidylinositol-Anchored Proteins in Synaptic Specification

(2017) Ji Won Um et al.   TRENDS IN CELL BIOLOGY

Inherited and acquired disorders of myelin: The underlying myelin pathology

(2016) Ian D. Duncan et al.   EXPERIMENTAL NEUROLOGY

Rare Noncoding Mutations Extend the Mutational Spectrum in thePGAP3Subtype of Hyperphosphatasia with Mental Retardation Syndrome

(2016) Alexej Knaus et al.   HUMAN MUTATION

Lrp5/6 are required for cerebellar development and for suppressing TH expression in Purkinje cells via β-catenin

(2016) Ying Huang et al.   Molecular Brain

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

(2016) Danielle N. Feather-Schussler et al.   Jove-Journal of Visualized Experiments

Neurological Aspects of Human Glycosylation Disorders

(2015) Hudson H. Freeze et al.   Annual Review of Neuroscience

Sun1 deficiency leads to cerebellar ataxia in mice

(2015) J.-Y. Wang et al.   Disease Models & Mechanisms

Glycosylphosphatidylinositol (GPI) Anchors: Biochemistry and Cell Biology: Introduction to a Thematic Review Series

(2015) Taroh Kinoshita   JOURNAL OF LIPID RESEARCH

Correction: Zhang et al., An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2015)   JOURNAL OF NEUROSCIENCE

The genotypic and phenotypic spectrum of PIGA deficiency

(2015) Maja Tarailo-Graovac et al.   Orphanet Journal of Rare Diseases

Behavioral phenotyping of Nestin-Cre mice: Implications for genetic mouse models of psychiatric disorders

(2014) Sebastian A. Giusti et al.   JOURNAL OF PSYCHIATRIC RESEARCH

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

(2014) M. Kato et al.   NEUROLOGY

Biosynthesis and deficiencies of glycosylphosphatidylinositol

(2014) Taroh KINOSHITA   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

Contactin-1 regulates myelination and nodal/paranodal domain organization in the central nervous system

(2014) G. Colakoglu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

(2013) Kathryn J. Swoboda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

(2013) I. Kuki et al.   NEUROLOGY

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Nestin-cre transgenic mouse is insufficient for recombination in early embryonic neural progenitors

(2012) H. Liang et al.   Biology Open

Brain regions and genes affecting limb-clasping responses

(2011) R. Lalonde et al.   BRAIN RESEARCH REVIEWS

Desflurane, Isoflurane, and Sevoflurane Provide Limited Neuroprotection against Neonatal Hypoxia-Ischemia in a Delayed Preconditioning Paradigm

(2009) John J. McAuliffe et al.   ANESTHESIOLOGY

Convergent extension movements in growth plate chondrocytes require gpi-anchored cell surface proteins

(2009) M. J. Ahrens et al.   DEVELOPMENT

Phenotypic and functional characterization of a mouse model of targeted Pig-a deletion in hematopoietic cells

(2009) V. Visconte et al.   HAEMATOLOGICA

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice

(2009) E. B. E. Becker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA