scholarly journals Farber's disease (lysosomal acid ceramidase deficiency).

1987 ◽  
Vol 46 (7) ◽  
pp. 559-561 ◽  
Author(s):  
R A Jameson ◽  
P J Holt ◽  
J H Keen
Keyword(s):  
Acid Ceramidase ◽  
Lysosomal Acid ◽  
Ceramidase Deficiency ◽  
Farber's Disease

scholarly journals Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Fabian P. S. Yu ◽  
Shaalee Dworski ◽  
Jeffrey A. Medin
Keyword(s):  
Acid Ceramidase ◽  
Ceramidase Deficiency

scholarly journals Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment

2019 ◽  
Vol 189 (2) ◽  
pp. 320-338 ◽  
Author(s):  
Fabian P.S. Yu ◽  
Benjamin S. Sajdak ◽  
Jakub Sikora ◽  
Alexander E. Salmon ◽  
Murtaza S. Nagree ◽  
...  
Keyword(s):  
Visual Impairment ◽  
Acid Ceramidase ◽  
Ocular Pathology ◽  
Ceramidase Deficiency

Farber disease (acid ceramidase deficiency): Data from an ongoing natural history study

2019 ◽  
Vol 126 (2) ◽  
pp. S136-S137
Author(s):  
Alexander Solyom ◽  
Carlos Ferreira ◽  
John Mitchell ◽  
Norberto Guelbert ◽  
Neslihan Mungan ◽  
...  
Keyword(s):  
Natural History ◽  
Acid Ceramidase ◽  
Natural History Study ◽  
Farber Disease ◽  
Ceramidase Deficiency

scholarly journals Acid Sphingomyelinase Deficiency Ameliorates Farber Disease

2019 ◽  
Vol 20 (24) ◽  
pp. 6253 ◽  
Author(s):  
Nadine Beckmann ◽  
Katrin Anne Becker ◽  
Stephanie Kadow ◽  
Fabian Schumacher ◽  
Melanie Kramer ◽  
...  
Keyword(s):  
Therapeutic Target ◽  
Treatment Options ◽  
Acid Sphingomyelinase ◽  
Proof Of Concept ◽  
Lysosomal Storage ◽  
Acid Ceramidase ◽  
Farber Disease ◽  
Ceramidase Deficiency ◽  
Ceramide Accumulation ◽  
Deficient Mice

Farber disease is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments for Farber disease are clinically available, and affected patients have a severely shortened lifespan. We have recently reported a novel acid ceramidase deficiency model that mirrors the human disease closely. Acid sphingomyelinase is the enzyme that generates ceramide upstream of acid ceramidase in the lysosomes. Using our acid ceramidase deficiency model, we tested if acid sphingomyelinase could be a potential novel therapeutic target for the treatment of Farber disease. A number of functional acid sphingomyelinase inhibitors are clinically available and have been used for decades to treat major depression. Using these as a therapeutic for Farber disease, thus, has the potential to improve central nervous symptoms of the disease as well, something all other treatment options for Farber disease can’t achieve so far. As a proof-of-concept study, we first cross-bred acid ceramidase deficient mice with acid sphingomyelinase deficient mice in order to prevent ceramide accumulation. Double-deficient mice had reduced ceramide accumulation, fewer disease manifestations, and prolonged survival. We next targeted acid sphingomyelinase pharmacologically, to test if these findings would translate to a setting with clinical applicability. Surprisingly, the treatment of acid ceramidase deficient mice with the acid sphingomyelinase inhibitor amitriptyline was toxic to acid ceramidase deficient mice and killed them within a few days of treatment. In conclusion, our study provides the first proof-of-concept that acid sphingomyelinase could be a potential new therapeutic target for Farber disease to reduce disease manifestations and prolong survival. However, we also identified previously unknown toxicity of the functional acid sphingomyelinase inhibitor amitriptyline in the context of Farber disease, strongly cautioning against the use of this substance class for Farber disease patients.

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

2016 ◽  
Vol 117 (2) ◽  
pp. S75-S76 ◽  
Author(s):  
Lucia Lopez-Vasquez ◽  
Shaalee Dworski ◽  
Roxane Pouliot ◽  
Todd Galbraith ◽  
Mustafa A. Kamani ◽  
...  
Keyword(s):  
Mouse Model ◽  
Acid Ceramidase ◽  
Farber Disease ◽  
Skin Abnormalities ◽  
Ceramidase Deficiency

scholarly journals Acid ceramidase deficiency: Farber disease and SMA-PME

2018 ◽  
Vol 13 (1) ◽  
Author(s):  
Fabian P. S. Yu ◽  
Samuel Amintas ◽  
Thierry Levade ◽  
Jeffrey A. Medin
Keyword(s):  
Acid Ceramidase ◽  
Farber Disease ◽  
Ceramidase Deficiency

Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease)

1985 ◽  
Vol 8 (1) ◽  
pp. 8-8 ◽  
Author(s):  
B. Cartigny ◽  
J. Libert ◽  
A. H. Fensom ◽  
J. J. Martin ◽  
J. L. Dhondt ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Ceramidase Deficiency ◽  
Farber's Disease

scholarly journals Targeting (cellular) lysosomal acid ceramidase by B13: Design, synthesis and evaluation of novel DMG-B13 ester prodrugs

2014 ◽  
Vol 22 (24) ◽  
pp. 6933-6944 ◽  
Author(s):  
Aiping Bai ◽  
Zdzislaw M. Szulc ◽  
Jacek Bielawski ◽  
Jason S. Pierce ◽  
Barbara Rembiesa ◽  
...  
Keyword(s):  
Acid Ceramidase ◽  
Design Synthesis ◽  
Lysosomal Acid ◽  
Ester Prodrugs

Acid Ceramidase Deficiency

2009 ◽  
pp. 12-12
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Acid Ceramidase ◽  
Ceramidase Deficiency
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