Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation

Free, unlinked glycosylphosphatidylinositols on mammalian cell surfaces revisited

(2019) Yicheng Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

(2019) Allan Bayat et al.   GENETICS IN MEDICINE

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

(2018) Kosuke Kohashi et al.   BRAIN & DEVELOPMENT

Advances in understanding the pathogenesis of acquired aplastic anaemia

(2018) Lucio Luzzatto et al.   BRITISH JOURNAL OF HAEMATOLOGY

Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domain

(2018) Tetsuya Hirata et al.   Nature Communications

Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3

(2018) Li Yang 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

Differential role of pannexin-1/ATP/P2X7 axis in IL-1β release by human monocytes

(2017) Katarzyna Parzych et al.   FASEB JOURNAL

Myeloid Cells in the Central Nervous System

(2017) Jasmin Herz et al.   IMMUNITY

Paroxysmal nocturnal haemoglobinuria

(2017) Anita Hill et al.   Nature Reviews Disease Primers

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

T helper 1 immunity requires complement-driven NLRP3 inflammasome activity in CD4+ T cells

(2016) G. Arbore et al.   SCIENCE

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

(2016) Nadia Skauli et al.   Genes

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

(2015) Christina Lam et al.   MOLECULAR GENETICS AND METABOLISM

Complement C5a potentiates uric acid crystal-induced IL-1β production

(2014) Ling-Ling An et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria

(2014) Wenyi Shen et al.   JOURNAL OF CLINICAL INVESTIGATION

Cholesterol Crystals Induce Complement-Dependent Inflammasome Activation and Cytokine Release

(2014) E. O. Samstad et al.   JOURNAL OF IMMUNOLOGY

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

Biosynthesis and deficiencies of glycosylphosphatidylinositol

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

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT

(2013) P. M. Krawitz et al.   BLOOD

Long-term safety and efficacy of sustained eculizumab treatment in patients with paroxysmal nocturnal haemoglobinuria

(2013) Peter Hillmen et al.   BRITISH JOURNAL OF HAEMATOLOGY

Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions

(2013) Athar Aziz et al.   JOURNAL OF CLINICAL INVESTIGATION

Cutting Edge: The NLRP3 Inflammasome Links Complement-Mediated Inflammation and IL-1  Release

(2013) F. Laudisi et al.   JOURNAL OF IMMUNOLOGY

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

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

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

(2012) Yoshiko Murakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A role for mitochondria in NLRP3 inflammasome activation

(2010) Rongbin Zhou et al.   NATURE

Complement: a key system for immune surveillance and homeostasis

(2010) Daniel Ricklin et al.   NATURE IMMUNOLOGY

Cryopyrinopathies: update on pathogenesis and treatment

(2008) Bénédicte Neven et al.   Nature clinical practice. Rheumatology