Results 11 to 20 of about 2,011 (166)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review. [PDF]

Am J Med Genet A
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
VanSickle EA, Sarasua SM, Lowe T, Farrell CL, Boccuto L, Schwartz C, Pegg AE, Peron A, Faundes V, Ganapathi M, Chung WK, Ziegler A, Hofstede F, Prouteau C, Steindl K, Olson C, Devinsky O, Mastracci TL, Casero RA, Stewart TM, Gilmour S, Koerner T, Kutler MJ, Rajasekaran S, Michael J, Bachmann AS, Bupp CP.   +26 more
europepmc   +2 more sources

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

African Trypanosomiasis Research at a Crossroads: Bibliometric and Systematic Insights for the Future. [PDF]

J Parasitol Res
Aim Despite a reduction in the overall incidence and prevalence in the last two decades, trypanosomiasis continues to be a public health concern in Africa. This study was designed to comprehensively evaluate current trends in trypanosomiasis research using bibliometric approaches to uncover emerging topics and knowledge gaps, thereby guiding future ...
Ogra IO, Adaji JZ, Jonathan EU, Nwajiani BK, Usman S, Kurovsky A, Sossou K, Balogun EO.   +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

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

Eflornithine for neuroblastoma. [PDF]

Aust Prescr
europepmc   +2 more sources

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 for treatment of high-risk neuroblastoma. [PDF]

Trends Pharmacol Sci
Jiang J, Yu Y.
europepmc   +3 more sources

Clinical importance of eflornithine (α-difluoromethylornithine) for the treatment of malignant gliomas

CNS Oncology, 2018
This review covers the literature between 1989 and 2007 on studies relevant to the neuro-oncology usage of eflornithine (α-difluoromethylornithine), an oral agent that irreversibly inhibits the enzyme ornithine decarboxylase.
Victor A Levin, Sandra E Ictech, Kenneth R Hess   +2 more
doaj   +1 more source