Acid ceramidase deficiency: Farber disease and SMA-PME

Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency

(2018) Fabian P. S. Yu et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1

(2018) Edibe Pembegül Yildiz et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

(2018) Melissa P. Wasserstein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Allogeneic hematopoietic cell transplantation in Farber disease

(2018) Karoline Ehlert et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Structural basis for the activation of acid ceramidase

(2018) Ahmad Gebai et al.   Nature Communications

Neuronal apoptosis inhibitory protein is implicated in amyotrophic lateral sclerosis symptoms

(2018) Osamu Kano et al.   Scientific Reports

Identification of ASAH1 as a susceptibility gene for familial keloids

(2017) Regie Lyn P Santos-Cortez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features

(2017) Matthias Zielonka et al.   GENETICS IN MEDICINE

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

(2017) Kristin D. Kernohan et al.   HUMAN MUTATION

Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial

(2017) Marc Tardieu et al.   LANCET NEUROLOGY

Farber disease: design of the first observational and cross-sectional cohort study capturing retrospective and prospective data on the natural history and phenotypic spectrum of patients, including novel methodologies for assessment of disease-specific symptoms

(2017) Alexander Solyom et al.   MOLECULAR GENETICS AND METABOLISM

AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: end-of-Study event free survival and achievement of developmental milestones

(2017) J. Mendell et al.   NEUROMUSCULAR DISORDERS

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

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

Morbidity and mortality associated with Farber disease and prospects for therapy

(2017) Edward H. Schuchman et al.   Expert Opinion on Orphan Drugs

Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34 + Cells for Correction of Fabry Disease

(2017) Ju Huang et al.   Molecular Therapy-Methods & Clinical Development

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

(2017) Claudia Cozma et al.   Scientific Reports

Atypical presentation of infantile-onset farber disease with novelASAH1mutations

(2016) Soo Yeon Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ceramide Signaling and Metabolism in Pathophysiological States of the Lung

(2016) Irina Petrache et al.   Annual Review of Physiology

Early morphological diagnosis of Farber disease

(2016) Vanessa Nivaggioni et al.   BRITISH JOURNAL OF HAEMATOLOGY

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

(2016) Massimiliano Filosto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

(2016) Maria Sessa et al.   LANCET

Farber disease: Implications of anti-inflammatory treatment

(2016) John Mitchell et al.   MOLECULAR GENETICS AND METABOLISM

Acid ceramidase deficiency leads to multiple skin abnormalities in a mouse model of Farber disease

(2016) Lucia Lopez-Vasquez et al.   MOLECULAR GENETICS AND METABOLISM

Insulin Receptor Antibody−α-N-Acetylglucosaminidase Fusion Protein Penetrates the Primate Blood–Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type B Fibroblasts

(2016) Ruben J. Boado et al.   MOLECULAR PHARMACEUTICS

Gene therapy's out-of-body experience

(2016) Christopher Thomas Scott et al.   NATURE BIOTECHNOLOGY

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

(2016) Giulio Genovese et al.   NATURE NEUROSCIENCE

Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation

(2016) Emel Oguz Akarsu et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

(2016) Luisa Bonafé et al.   Arthritis & Rheumatology

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations inASAH1

(2015) Guido Rubboli et al.   EPILEPSIA

Novel use of the lysosomal enzyme acid ceramidase for the treatment of inflammatory lung diseases, including cystic fibrosis

(2015) Edward H. Schuchman et al.   MOLECULAR GENETICS AND METABOLISM

Acid ceramidase deficiency: Clinical implications of an emerging phenotypic spectrum and potential therapies

(2015) Alexander Solyom et al.   MOLECULAR GENETICS AND METABOLISM

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

(2015) Melissa P. Wasserstein et al.   MOLECULAR GENETICS AND METABOLISM

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy

(2015) Joanna J. Gan et al.   NEUROMUSCULAR DISORDERS

Mutations in ASAH1 may cause spinal muscular atrophy

(2015) A. Behin et al.   NEUROMUSCULAR DISORDERS

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1

(2015) Beatriz G. Giráldez et al.   NEUROMUSCULAR DISORDERS

Transplantation in inborn errors of metabolism: current considerations and future perspectives

(2014) Jaap Jan Boelens et al.   BRITISH JOURNAL OF HAEMATOLOGY

Sphingoid long chain bases prevent lung infection by Pseudomonas aeruginosa

(2014) Y. Pewzner-Jung et al.   EMBO Molecular Medicine

Phenotypic characterization of the spinal muscular atrophy with progressive myoclonus epilepsy syndrome caused by ASAH1 mutations

(2014) Swati Sathe et al.   MOLECULAR GENETICS AND METABOLISM

Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation

(2014) M. Torcoletti et al.   RHEUMATOLOGY

Molecular analyses of novelASAH1mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

(2013) M.D. Bashyam et al.   CLINICAL GENETICS

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

(2013) D.A. Dyment et al.   CLINICAL GENETICS

Systemic ceramide accumulation leads to severe and varied pathological consequences

(2013) Abdulfatah M. Alayoubi et al.   EMBO Molecular Medicine

Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation

(2013) Andrea Jarisch et al.   EUROPEAN JOURNAL OF PEDIATRICS

Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis

(2013) Mikhail M. Kostik et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

(2013) Mariana Q. Alves et al.   MOLECULAR GENETICS AND METABOLISM

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Construction of Conditional Acid Ceramidase Knockout Mice andin vivoEffects on Oocyte Development and Fertility

(2012) Efrat Eliyahu et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

A novel mutation in an atypical presentation of the rare infantile Farber disease

(2011) Fatma Al Jasmi   BRAIN & DEVELOPMENT

Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system

(2011) Aziza K. Chedrawi et al.   BRAIN & DEVELOPMENT

Autologous Transplantation of Lentivector/Acid Ceramidase–Transduced Hematopoietic Cells in Nonhuman Primates

(2011) Jagdeep S. Walia et al.   HUMAN GENE THERAPY

Ex vivo gene transfer and correction for cell-based therapies

(2011) Luigi Naldini   NATURE REVIEWS GENETICS

Identification of theN-acylsphingosine amidohydrolase 1 gene(ASAH1)for susceptibility to schizophrenia in a Han Chinese population

(2011) Huaihui Zhang et al.   WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY

Quantification of ceramide species in biological samples by liquid chromatography electrospray ionization tandem mass spectrometry

(2010) Takhar Kasumov et al.   ANALYTICAL BIOCHEMISTRY

Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease

(2010) Y. Ben-Yoseph et al.   CLINICAL GENETICS

Familial Lipogranulomatosis (Farber's disease)

(2010) G. H. Amirhakimi et al.   CLINICAL GENETICS

Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation

(2010) L. Cvitanovic-Sojat et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

(2010) Paul Harmatz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease

(2010) Carmen Bedia et al.   JOURNAL OF LIPID RESEARCH

Ceramide and ceramide 1-phosphate in health and disease

(2010) Lide Arana et al.   Lipids in Health and Disease

Control of metabolism and signaling of simple bioactive sphingolipids: Implications in disease

(2010) Patricia Gangoiti et al.   PROGRESS IN LIPID RESEARCH

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment

(2009) Edoardo Ferlazzo et al.   MOVEMENT DISORDERS

Autoproteolytic Cleavage and Activation of Human Acid Ceramidase

(2008) Nataly Shtraizent et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease

(2008) Shobha Ramsubir et al.   MOLECULAR GENETICS AND METABOLISM

Principles of bioactive lipid signalling: lessons from sphingolipids

(2008) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Farber's Disease Type IV Presenting with Cholestasis and Neonatal Liver Failure: Report of Two Cases

(2008) Asha Willis et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY