Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2 γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

(2014) A. Kemal Topaloglu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

(2014) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

(2014) A. Deik et al.   JOURNAL OF NEUROLOGY

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

(2014) M.A. Illingworth et al.   MOLECULAR GENETICS AND METABOLISM

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

(2013) Amir Boukhris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

(2013) G. Yoon et al.   NEUROGENETICS

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

(2013) Mustafa A. Salih et al.   PLoS One

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Symptomatic lipid storage in carriers for the PNPLA2 gene

(2012) Mirian C H Janssen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic Ablation of Calcium-independent Phospholipase A2γ (iPLA2γ) Attenuates Calcium-induced Opening of the Mitochondrial Permeability Transition Pore and Resultant CytochromecRelease

(2012) Sung Ho Moon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Activation of Mitochondrial Calcium-independent Phospholipase A2γ (iPLA2γ) by Divalent Cations Mediating Arachidonate Release and Production of Downstream Eicosanoids

(2012) Sung Ho Moon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Complement-mediated Activation of Calcium-independent Phospholipase A2γ

(2012) Hanan Elimam et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

(2012) F. Lamari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Role for gene looping in intron-mediated enhancement of transcription

(2012) A. M. Moabbi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

(2011) Peter Reilich et al.   JOURNAL OF NEUROLOGY

Neuroaxonal Dystrophy in Calcium-Independent Phospholipase A2  Deficiency Results from Insufficient Remodeling and Degeneration of Mitochondrial and Presynaptic Membranes

(2011) G. Beck et al.   JOURNAL OF NEUROSCIENCE

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Novel splice-site mutations and a large intragenic deletion inPLA2G6associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy

(2010) A Tonelli et al.   CLINICAL GENETICS

Genetic Ablation of Calcium-independent Phospholipase A2γ Leads to Alterations in Hippocampal Cardiolipin Content and Molecular Species Distribution, Mitochondrial Degeneration, Autophagy, and Cognitive Dysfunction

(2009) David J. Mancuso et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY

(2008) A. Garcia-Cazorla et al.   NEUROLOGY