Results 11 to 20 of about 47,001 (202)

FARBER DISEASE — DISEASE DESCRIPTION WITH CASE REPORTS

Вопросы современной педиатрии, 2014
Farber disease (lipogranulomatosis, OMIM 228000) — is extremely rare autosomal-recessive disorder from group of lysosomal storage disorders, due to deficiency of acid ceramidase activity enzyme.
I. A. Chikova, N. V. Buchinskaya, М. М. Kostik, V. V. Avramenko, O. L. Krasnogorskaya, R. A. Nasirov, T. Levade, V. G. Chasnyk   +7 more
doaj   +3 more sources

Safety and tolerability study of sotrovimab (VIR-7831) prophylaxis against COVID-19 infection in immunocompromised individuals with impaired SARS-CoV-2 humoral immunity

Pilot and Feasibility Studies, 2023
Background Multiple vaccines have been approved since August 2021 to prevent infection with SARS-CoV-2; however, 20–40% of immunocompromised people fail to develop SARS-CoV-2 spike antibodies after COVID-19 vaccination and remain at high risk of ...
Isabel H. Gonzalez-Bocco, Katherine Beluch, Alyssa Cho, Chloe Lahoud, Fabiola A. Reyes, Dimitrios G. Moshovitis, Gillian M. Unger-Mochrie, Wei Wang, Sarah P. Hammond, Jennifer Manne-Goehler, Sophia Koo   +10 more
doaj   +1 more source

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

Communications Biology, 2023
Mutations in ASAH1 have been linked to two allegedly distinct disorders: Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).
Murtaza S. Nagree, Jitka Rybova, Annie Kleynerman, Carissa J. Ahrenhoerster, Jennifer T. Saville, TianMeng Xu, Maxwell Bachochin, William M. McKillop, Michael W. Lawlor, Alexey V. Pshezhetsky, Olena Isaeva, Matthew D. Budde, Maria Fuller, Jeffrey A. Medin   +13 more
doaj   +1 more source

Identification of disease-related aberrantly spliced transcripts in myeloma and strategies to target these alterations by RNA-based therapeutics

Blood Cancer Journal, 2023
Novel drug discoveries have shifted the treatment paradigms of most hematological malignancies, including multiple myeloma (MM). However, this plasma cell malignancy remains incurable, and novel therapies are therefore urgently needed.
Daisuke Ogiya, Zuzana Chyra, Sigitas J. Verselis, Morgan O’Keefe, Jacquelyn Cobb, Ivane Abiatari, Srikanth Talluri, Anjana Anilkumar Sithara, Teru Hideshima, Michael P. Chu, Roman Hájek, David M. Dorfman, Linda M. Pilarski, Kenneth C. Anderson, Sophia Adamia   +14 more
doaj   +1 more source

Turnover of endogenous ceramide in cultured normal and Farber fibroblasts

Journal of Lipid Research, 1997
De novo synthesis and turnover of endogenous ceramide in cultured skin fibroblasts from patients affected with Farber lipogranulomatosis were studied by biosynthetical labeling of cellular sphingolipids with [14C]serine.
G van Echten-Deckert, A Klein, T Linke, T Heinemann, J Weisgerber, K Sandhoff   +5 more
doaj   +1 more source

The Path Forward: The Future of Providing Safe Cancer Care

Patient Safety, 2022
An estimated 1 in every 182 Americans will be diagnosed with cancer this year. Providing them safe care has inherent challenges, such as reaching an accurate diagnosis as quickly as possible, differentiating between disease progression and treatment side
Caitlyn Allen, Joseph O. Jacobson
doaj   +1 more source

Farber disease: clinical presentation, pathogenesis and a new approach to treatment

Pediatric Rheumatology Online Journal, 2007
Background Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes.
Roth Johannes, Zander Axel, Fehse Natalja, Frosch Michael, Ehlert Karoline, Vormoor Josef   +5 more
doaj   +1 more source

Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions

Biomolecules, 2023
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by ASAH1 gene mutations.
Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade, Jeffrey A. Medin   +5 more
doaj   +1 more source

Reproducible isolation of lymph node stromal cells reveals site-dependent differences in fibroblastic reticular cells

Frontiers in Immunology, 2011
Within lymph nodes, non-hematopoietic stromal cells organize and interact with leukocytes in an immunologically important manner. In addition to organizing T and B cell segregation and expressing lymphocyte survival factors, several recent studies have ...
Anne L Fletcher, Deepali eMalhotra, Sophie E Acton, Veronika eLukacs-Kornek, Angelique eBellemare-Pelletier, Mark eCurry, Myriam eArmant, Shannon J Turley, Shannon J Turley   +8 more
doaj   +1 more source

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

Journal of Lipid Research, 2010
Acid ceramidase (aCDase) is one of several enzymes responsible for ceramide degradation within mammalian cells. As such, aCDase regulates the intracellular levels of the bioactive lipid ceramide.
Carmen Bedia, Luz Camacho, José Luís Abad, Gemma Fabriàs, Thierry Levade   +4 more
doaj   +1 more source