ArticleThe American journal of pathology2017
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
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Article in The American journal of pathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32citing papers in PubMed
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32 citing papers in PubMed, 49 citations in OpenAlex.
- Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, andNeurology. Genetics · 2025Article
- Impacts of hnRNP A1 Splicing Inhibition on the Brain Remyelination Proteome.Journal of neurochemistry · 2025Article
- Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Ceramides are fuel gauges on the drive to cardiometabolic disease.Physiological reviews · 2024Review
- Targeting GM2 Ganglioside Accumulation in Dementia: Current Therapeutic Approaches and Future Directions.Current molecular medicine · 2024Review
- Functional roles of sphingolipids in immunity and their implication in disease.Experimental & molecular medicine · 2023Review
- Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.Communications biology · 2023Article
- rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis.Gene therapy · 2023Article
- Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.Biomolecules · 2023Review
- Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.Journal of inherited metabolic disease · 2022Article
- Transactivation Response DNA-Binding Protein of 43 (TDP-43) and Glial Cell Roles in Neurological Disorders.Cureus · 2022Review
- Regulation of exosome release by lysosomal acid ceramidase in coronary arterial endothelial cells: Role of TRPML1 channel.Current topics in membranes · 2022Article
- Involvement of Ceramide Metabolism in Cerebral Ischemia.Frontiers in molecular biosciences · 2022Review
- Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease.BMJ case reports · 2021Article
- Human Brain Lipidomics: Utilities of Chloride Adducts in Flow Injection Analysis.Life (Basel, Switzerland) · 2021Article
- Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Genetic defects in the sphingolipid degradation pathway and their effects on microglia in neurodegenerative disease.Cellular signalling · 2021Review
- Elusive Roles of the Different Ceramidases in Human Health, Pathophysiology, and Tissue Regeneration.Cells · 2020Review
- Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.International journal of molecular sciences · 2020Article
- Sphingolipids as prognostic biomarkers of neurodegeneration, neuroinflammation, and psychiatric diseases and their emerging role in lipidomic investigation methods.Advanced drug delivery reviews · 2020Review
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Authors and funding
18 authors at 10 institutions in 5 countries.
Jakub SikoraDominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, New York; Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine, Prague, Czech Republic; Institute of Pathology, Charles University, 1st Faculty of Medicine, Prague, Czech Republic.
Shaalee DworskiInstitute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
E Ellen JonesDepartment of Cell and Molecular Pharmacology, Medical University of South Carolina, Charleston, South Carolina.
Mustafa A KamaniUniversity Health Network, Toronto, Ontario, Canada.
Matthew C MicsenyiDominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, New York.
Tomo SawadaDominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, New York.
Pauline Le FaouderMetaToul-Lipidomic Facility-MetaboHUB, INSERM UMR1048, Institute of Cardiovascular and Metabolic Diseases, Université Paul Sabatier-Toulouse III, Toulouse, France.
Justine Bertrand-MichelMetaToul-Lipidomic Facility-MetaboHUB, INSERM UMR1048, Institute of Cardiovascular and Metabolic Diseases, Université Paul Sabatier-Toulouse III, Toulouse, France.
Aude DupuyMetaToul-Lipidomic Facility-MetaboHUB, INSERM UMR1048, Institute of Cardiovascular and Metabolic Diseases, Université Paul Sabatier-Toulouse III, Toulouse, France.
Christopher K DunnUniversity Health Network, Toronto, Ontario, Canada.
Ingrid Cong Yang XuanDepartment of Pharmaceutical Sciences, University of Toronto, Toronto, Ontario, Canada.
Josefina CasasResearch Unit on Bioactive Molecules, Department of Biomedicinal Chemistry, Institute for Advanced Chemistry of Catalonia, Spanish National Research Council, Barcelona, Spain.
Gemma FabriasResearch Unit on Bioactive Molecules, Department of Biomedicinal Chemistry, Institute for Advanced Chemistry of Catalonia, Spanish National Research Council, Barcelona, Spain.
David R HampsonDepartment of Pharmaceutical Sciences, University of Toronto, Toronto, Ontario, Canada.
Thierry LevadeINSERM UMR1037, Cancer Research Center of Toulouse, Universite Toulouse III Paul-Sabatier, Toulouse, France; Metabolic Biochemistry Laboratory, Federative Institute of Biology, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
Richard R DrakeDepartment of Cell and Molecular Pharmacology, Medical University of South Carolina, Charleston, South Carolina.
Jeffrey A MedinInstitute of Medical Science, University of Toronto, Toronto, Ontario, Canada; University Health Network, Toronto, Ontario, Canada; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada; Medical College of Wisconsin, Milwaukee, Wisconsin. Electronic address: jmedin@mcw.edu.
Steven U WalkleyDominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, New York. Electronic address: steve.walkley@einstein.yu.edu.
Albert Einstein College of Medicine · USUniversity of Toronto · CAInstitute of Advanced Chemistry of Catalonia · ESMedical University of South Carolina · USUniversité Toulouse III - Paul Sabatier · FRUniversity Health Network · CACharles University · CZInserm · FRInstitut des Maladies Métaboliques et Cardiovasculaires · FRMedical College of Wisconsin · US
Funding
Translational Science Laboratory Shared ResourceP30CA138313 · NCI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI RAYMOND N. DUBOIS · 2009 to 2026
$42.7MSOUTH CAROLINA CLINICAL & TRANSLATIONAL RESEARCH INSTITUTE (SCTR)UL1RR029882 · NCRR · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI BRADY, KATHLEEN T. · 2009 to 2011
$10.1MSouth Carolina Clinical & Translational Research Institute (SCTR)UL1TR000062 · NCATS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI BRADY, KATHLEEN T. · 2012 to 2014
$9.4MEndosomal-Lysosomal Function in Neuronal Storage DiseaseR01HD045561 · NICHD · ALBERT EINSTEIN COL OF MED YESHIVA UNIV · PI DOBRENIS, KOSTANTIN, WALKLEY, STEVEN UPSHAW · 2004 to 2021
$6.9MSupport for the Rose F. Kennedy IDDRCU54HD090260 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI WALKLEY, STEVEN UPSHAW · 2016 to 2020
$6.0MTranslational Neuroimaging CoreP30HD071593 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI WALKLEY, STEVEN UPSHAW · 2011 to 2015
$5.6MGenetic Correction of a Novel "Knock-in" Mouse Model for Farber DiseaseR21NS078191 · NINDS · UNIVERSITY HEALTH NETWORK · PI MEDIN, JEFFREY A · 2013 to 2014
$294kNeuroaxonal Dystrophy in Purkinje Cell Death in NPC DiseaseF05NS074790 · NINDS · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI SIKORA, JAKUB · 2011 to 2013
$179kNCATS NIH HHS UL1 TR000062NCI NIH HHS P30 CA138313NCRR NIH HHS UL1 RR029882NICHD NIH HHS P30 HD071593NICHD NIH HHS R01 HD045561NICHD NIH HHS U54 HD090260NINDS NIH HHS F05 NS074790NINDS NIH HHS R21 NS078191
Abstract
Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated behavioral, biochemical, and cellular abnormalities in the central nervous system of Asah1
Indexed as
Acid CeramidaseAnimalsBehavior, AnimalCentral Nervous SystemCerebellumCerebrumFarber LipogranulomatosisHomozygoteHydrocephalusMiceMice, TransgenicMotor ActivityNervous System MalformationsNeuronsPhenotypeSpectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationAcid CeramidaseAsah1 protein, mouseSphingolipids
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.