Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy

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

(2020) Marshall Lukacs et al.   HUMAN MOLECULAR GENETICS

Biosynthesis and biology of mammalian GPI-anchored proteins

(2020) Taroh Kinoshita   Open Biology

Human Immune Responses to Adeno-Associated Virus (AAV) Vectors

(2020) Giuseppe Ronzitti et al.   Frontiers in Immunology

A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4 Mice

(2020) Pedro Silva-Pinheiro et al.   Molecular Therapy-Methods & Clinical Development

Exosomes and GPI-anchored proteins: Judicious pairs for investigating biomarkers from body fluids

(2020) Michel Vidal   ADVANCED DRUG DELIVERY REVIEWS

The GPI-Linked Protein LY6A Drives AAV-PHP.B Transport across the Blood-Brain Barrier

(2019) Juliette Hordeaux et al.   MOLECULAR THERAPY

PTZ-induced seizures in mice require a revised Racine scale

(2019) Jan Van Erum et al.   EPILEPSY & BEHAVIOR

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

(2019) Alexej Knaus et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

(2019) Yoshiko Murakami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Precise in vivo genome editing via single homology arm donor mediated intron-targeting gene integration for genetic disease correction

(2019) Keiichiro Suzuki et al.   CELL RESEARCH

Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHP.B capsids

(2019) Qin Huang et al.   PLoS One

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

(2018) Alistair T. Pagnamenta et al.   HUMAN MUTATION

The Neurotropic Properties of AAV-PHP.B Are Limited to C57BL/6J Mice

(2018) Juliette Hordeaux et al.   MOLECULAR THERAPY

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

The release of glycosylphosphatidylinositol-anchored proteins from the cell surface

(2018) Günter A. Müller   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

(2018) Karin Kojima et al.   BRAIN

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

(2017) Devon L. Johnstone et al.   HUMAN MOLECULAR GENETICS

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

(2017) Junpei Tanigawa et al.   HUMAN MUTATION

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

(2017) Yoav Zehavi et al.   METABOLIC BRAIN DISEASE

The control of DNA repair by the cell cycle

(2017) Nicole Hustedt et al.   NATURE CELL BIOLOGY

Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems

(2017) Ken Y Chan et al.   NATURE NEUROSCIENCE

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Neural Glycosylphosphatidylinositol-Anchored Proteins in Synaptic Specification

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

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

(2016) Periklis Makrythanasis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

(2016) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration

(2016) Keiichiro Suzuki et al.   NATURE

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

(2015) Biljana Ilkovski et al.   HUMAN MOLECULAR GENETICS

PIGOmutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

(2014) Kazuyuki Nakamura et al.   EPILEPSIA

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

UniProt: a hub for protein information

(2014)   NUCLEIC ACIDS RESEARCH

Biosynthesis and deficiencies of glycosylphosphatidylinositol

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

Intravenous Injections in Neonatal Mice

(2014) Sara E. Gombash Lampe et al.   Jove-Journal of Visualized Experiments

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

(2013) Tomohiro Chiyonobu et al.   JOURNAL OF MEDICAL GENETICS

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

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Algorithm for sleep scoring in experimental animals based on fast Fourier transform power spectrum analysis of the electroencephalogram

(2008) Sayaka KOHTOH et al.   Sleep and Biological Rhythms