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Biological Chemistry Jun 2015Acid ceramidase (N-acylsphingosine deacylase, EC 3.5.1.23; AC) is the lipid hydrolase responsible for the degradation of ceramide into sphingosine and free fatty acids... (Review)
Review
Acid ceramidase (N-acylsphingosine deacylase, EC 3.5.1.23; AC) is the lipid hydrolase responsible for the degradation of ceramide into sphingosine and free fatty acids within lysosomes. The enzymatic activity was first identified over four decades ago and is deficient in two rare inherited disorders, Farber lipogranulomatosis (Farber disease) and spinal muscular atrophy with myoclonic epilepsy (SMA-PME). Importantly, AC not only hydrolyzes ceramide into sphingosine within acidic compartments, but also can synthesize ceramide from sphingosine at neutral pH, suggesting that the enzyme may have diverse functions depending on its subcellular location and the local pH. Within cells, AC exists in a complex with other lipid hydrolases and requires a polypeptide cofactor (saposin D) for full hydrolytic activity. Recent studies also have shown that AC is overexpressed in several human cancers, and that inhibition of this enzyme may be a useful cancer drug target. Aberrant AC activity has also been described in several other common diseases. The cDNA and gene (ASAH1) encoding AC have been isolated, several mouse models of AC deficiency have been constructed, and the recombinant enzyme is currently being manufactured for the treatment of Farber disease and SMA-PME. Current information concerning the biology of this enzyme and its role in human disease is reviewed within.
Topics: Acid Ceramidase; Animals; Ceramides; Enzyme Replacement Therapy; Humans; Lysosomes; Molecular Medicine
PubMed: 25938220
DOI: 10.1515/hsz-2014-0290 -
The Netherlands Journal of Medicine Apr 2013
Topics: Humans; Molecular Medicine
PubMed: 23712804
DOI: No ID Found -
Trends in Molecular Medicine May 2022
Topics: Humans; Molecular Medicine
PubMed: 35410766
DOI: 10.1016/j.molmed.2022.03.008 -
Clinical and Translational Medicine Jan 2021
Topics: Humans; Molecular Medicine; Precision Medicine; Translational Research, Biomedical
PubMed: 33463066
DOI: 10.1002/ctm2.294 -
Cancer Journal (Sudbury, Mass.) 2016Recent advances in the molecular characterization of cancers have triggered interest in developing a new taxonomy of disease in oncology with the goal of using the... (Review)
Review
Recent advances in the molecular characterization of cancers have triggered interest in developing a new taxonomy of disease in oncology with the goal of using the molecular profile of a patient's tumor to predict response to treatment. Image-guided needle biopsy is central to this "precision medicine" effort. In this review, we first discuss the current role of biopsy in relation to clinical examples of molecular medicine. We then outline important bottlenecks to the advancement of precision medicine and highlight the potential role of image-guided biopsy to address these challenges.
Topics: Humans; Image-Guided Biopsy; Molecular Medicine; Neoplasms
PubMed: 27870685
DOI: 10.1097/PPO.0000000000000228 -
Journal of Cellular and Molecular... Feb 2017
Topics: Biomedical Research; Cell Biology; Editorial Policies; Forecasting; Humans; Journal Impact Factor; Molecular Biology; Molecular Medicine; Periodicals as Topic
PubMed: 28121074
DOI: 10.1111/jcmm.13075 -
Clinics in Laboratory Medicine Dec 2013This article provides an overview of the application of molecular diagnostic methods to red cell and platelet compatibility testing. The advantages and limitations of... (Review)
Review
This article provides an overview of the application of molecular diagnostic methods to red cell and platelet compatibility testing. The advantages and limitations of molecular methods are evaluated compared with traditional serologic methods. The molecular bases of clinically significant red cell and platelet antigens are presented. Current recommendations for reporting molecular assay results and distinctions between genotype and phenotype are discussed.
Topics: Humans; Pathology, Molecular; Transfusion Medicine
PubMed: 24267187
DOI: 10.1016/j.cll.2013.08.004 -
The New England Journal of Medicine Sep 2023
Topics: Humans; Artificial Intelligence; Molecular Medicine
PubMed: 37754302
DOI: 10.1056/NEJMc2308776 -
EMBO Molecular Medicine Jan 2014These are exciting times for translational medicine as the convergence between fundamental and clinical research comes of age. The new EMBO Press publishing platform...
These are exciting times for translational medicine as the convergence between fundamental and clinical research comes of age. The new EMBO Press publishing platform reinforces the standing of EMBO Molecular Medicine as the journal that matches high quality, novel research with rigorous editorial and ethical standards. It will also cement the journal's global reach and relevance - whether in highly active fields or explorative forays into emerging areas.
Topics: Molecular Medicine; Publishing
PubMed: 24408963
DOI: 10.1002/emmm.201303745 -
Journal of Nuclear Medicine : Official... Jul 2020Radionuclide imaging of myocardial perfusion, function, and viability has been established for decades and remains a robust, evidence-based and broadly available means... (Review)
Review
Radionuclide imaging of myocardial perfusion, function, and viability has been established for decades and remains a robust, evidence-based and broadly available means for clinical workup and therapeutic guidance in ischemic heart disease. Yet, powerful alternative modalities have emerged for this purpose, and their growth has resulted in increasing competition. But the potential of the tracer principle goes beyond the assessment of physiology and function, toward the interrogation of biology and molecular pathways. This is a unique selling point of radionuclide imaging, which has been underrecognized in cardiovascular medicine until recently. Now, molecular imaging methods for the detection of myocardial infiltration, device infection, and cardiovascular inflammation are successfully gaining clinical acceptance. This is further strengthened by the symbiotic quest of cardiac imaging and therapy for an increasing implementation of molecule-targeted procedures, in which specific therapeutic interventions require specific diagnostic guidance toward the most suitable candidates. This review will summarize the current advent of clinical cardiovascular molecular imaging and highlight its transformative contribution to the evolution of cardiovascular therapy beyond mechanical interventions and broad blockbuster medication, toward a future of novel, individualized molecule-targeted and molecular imaging-guided therapies.
Topics: Cardiology; Cardiovascular Diseases; Humans; Molecular Imaging; Molecular Medicine; Nuclear Medicine
PubMed: 32303601
DOI: 10.2967/jnumed.119.240440