Results 11 to 20 of about 3,601 (193)

Repurposing With Purpose: Treatment of Bachmann-Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies. [PDF]

Am J Med Genet C Semin Med Genet
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Bupp CP, VanSickle EA, Michael J, Schultz CR, Nguyen K, Hoefer M, Rajasekaran S, Bachmann AS.   +7 more
europepmc   +2 more sources

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder–Robinson syndrome

EMBO Molecular Medicine, 2023
Snyder–Robinson syndrome (SRS) results from mutations in spermine synthase (SMS), which converts the polyamine spermidine into spermine. Affecting primarily males, common manifestations of SRS include intellectual disability, osteoporosis, hypotonia, and
Tracy Murray Stewart, Jackson R Foley, Cassandra E Holbert, Maxim Khomutov, Noushin Rastkari, Xianzun Tao, Alex R Khomutov, R Grace Zhai, Robert A Casero   +8 more
doaj   +1 more source

An Update on African Trypanocide Pharmaceutics and Resistance

Frontiers in Veterinary Science, 2022
African trypanosomiasis is associated with Trypanosoma evansi, T. vivax, T. congolense, and T. brucei pathogens in African animal trypanosomiasis (AAT) while T. b gambiense and T.
Keneth Iceland Kasozi, Keneth Iceland Kasozi, Ewan Thomas MacLeod, Ibrahim Ntulume, Susan Christina Welburn, Susan Christina Welburn   +5 more
doaj   +1 more source

ODC-Driven Polyamines Synthesis Sustains the Self-Renewal of Glioblastoma Stem Cells and Drives Tumor Aggressiveness. [PDF]

Cancer Sci
Our findings delineate a novel regulatory network that integrates metabolic and GSCs self‐renewal in GBM. By integrating genetic ODC ablation with multiomic profiling, we redefine polyamine metabolism as a linchpin of GSCs self‐renewal, a dependency exploitable through precision gene editing.
Wei XC, Zhang HQ, Liu GQ, Liu CW, Li AL, Pan X, Yan WQ, Chen JY.   +7 more
europepmc   +2 more sources

Ball-Milling Assisted Iron-Catalyzed Difluoromethylation Toward the Synthesis of Valuable Oxindoles. [PDF]

ChemSusChem
An iron‐catalyzed difluoroalkylation of acrylamides under ball‐milling conditions affords oxindoles in up to 85% yield. Analytical studies reveal that the apparent piezoelectric activity originates from iron leaching caused by milling assembly abrasion during the reaction process. The iron‐catalyzed process proves to be efficient with a broad substrate
Solomin V, Delcroix N, Caldiero M, Jubault P, Castanheiro T.   +4 more
europepmc   +2 more sources

Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

eLife, 2021
Background: Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to profound abnormalities.
Surender Rajasekaran, Caleb P Bupp, Mara Leimanis-Laurens, Ankit Shukla, Christopher Russell, Joseph Junewick, Emily Gleason, Elizabeth A VanSickle, Yvonne Edgerly, Bryan M Wittmann, Jeremy W Prokop, André S Bachmann   +11 more
doaj   +1 more source

Effectiveness of Nifurtimox Eflornithine Combination Therapy (NECT) in T. b. gambiense second stage sleeping sickness patients in the Democratic Republic of Congo: Report from a field study

PLoS Neglected Tropical Diseases, 2021
Background Nifurtimox-eflornithine combination therapy (NECT) for the treatment of second stage gambiense human African trypanosomiasis (HAT) was added to the World Health Organization’s Essential Medicines List in 2009 after demonstration of its non ...
Andrea Kuemmerle, Caecilia Schmid, Sonja Bernhard, Victor Kande, Wilfried Mutombo, Medard Ilunga, Ismael Lumpungu, Sylvain Mutanda, Pathou Nganzobo, Digas Ngolo Tete, Mays Kisala, Christian Burri, Severine Blesson, Olaf Valverde Mordt   +13 more
doaj   +2 more sources

Systematic Review and Meta-Analysis on Human African Trypanocide Resistance

Pathogens, 2022
Background Human African trypanocide resistance (HATr) is a challenge for the eradication of Human African Trypansomiaisis (HAT) following the widespread emergence of increased monotherapy drug treatment failures against Trypanosoma brucei gambiense and ...
Keneth Iceland Kasozi, Ewan Thomas MacLeod, Susan Christina Welburn   +2 more
doaj   +1 more source

Eflornithine is a cost-effective alternative to melarsoprol for the treatment of second-stage human West African trypanosomiasis in Caxito, Angola. [PDF]

, 2008
OBJECTIVE: To compare the cost-effectiveness of eflornithine and melarsoprol in the treatment of human African trypanosomiasis. METHOD: We used data from a Médecins Sans Frontières treatment project in Caxito, Angola to do a formal cost-effectiveness ...
Adam, Blum, Burri, Burri, Chappuis, Commission for Macroeconomics and Health, Edejer, Evans, Goldie, Legros, Louis, Lutumba, Matovu, Murray, Murray, Pepin, Pepin, Pepin, Politi, Priotto, Robays, Schmid, Schmid, Stanghellini   +23 more
core   +2 more sources

Human African trypanosomiasis : current status and eradication efforts [PDF]

, 2020
Epidemics of human African trypanosomiasis (HAT) in the 20th century led to millions of deaths. However, since the start of the twenty-first century, there is been a continued decline in the number of reported cases, due to increased investment and ...
Davis, Christopher, Keeling, Matthew James, Rock, Kat S.   +2 more
core   +1 more source