Results 121 to 130 of about 176,600 (181)

Snyder-Robinson syndrome

Autopsy and Case Reports, 2018
Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs.
Rachel Starks, Patricia Kirby, Michael Ciliberto, Marco Hefti   +3 more
doaj  

Skin fibroblasts from spermine synthase-deficient hemizygous gyro male (Gy/Y) mice overproduce spermidine and exhibit increased resistance to oxidative stress but decreased resistance to UV irradiation

, 2001
Hemizygous gyro male (Gy/Y) mice are a model for X-linked hypophosphataemic rickets. As in humans, the disease is caused by deletions in the Phex gene, a phosphate-regulating gene having homologies with endopeptidases on the X chromosome. Some phenotypic
Heby, Olle, Gritli Linde, Amel,
core  

Enhancing the radiosensitivity of colorectal cancer cells by reducing spermine synthase through promoting autophagy and DNA damage. [PDF]

World J Gastrointest Oncol
Guo YB, Wu YM, Lin ZZ.
europepmc   +1 more source

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. [PDF]

Nat Commun, 2018
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.   +15 more
europepmc   +1 more source

Crystallization of spermidine synthase for structure-based inhibitory drug design.

Spermidine, putrescine and spermine are essential polyamines found in all living organisms. Putrescine, synthesized from L-ornithine, which is a non-essential amino acid in humans, serves as the precursor.
Canfield, Molly.
core   +1 more source

Polyamine-mediated inhibition of ferroptosis contributes to geroprotection. [PDF]

Cell Stress
Madeo F, Carmona-Gutierrez D, Kroemer G.
europepmc   +1 more source

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder–Robinson syndrome

Disease Models & Mechanisms
Oluwaseun Akinyele, Anushe Munir, Marie A. Johnson, Megan S. Perez, Yuan Gao, Jackson R. Foley, Ashley Nwafor, Yijen Wu, Tracy Murray-Stewart, Robert A. Casero, Hülya Bayir, Dwi U. Kemaladewi   +11 more
doaj   +1 more source

Age- and Cell-Specific Regulation of Testicular Polyamine Metabolism Promotes Increased Catabolism During Maturation and Aging in Syrian Hamsters. [PDF]

Biology (Basel)
Gomez AC, González I, Rossi SP, Calandra RS, Frungieri MB, Matzkin ME.   +5 more
europepmc   +1 more source

Dual Functions of Polyamines in Shaping Host-Specific Pathogen Dynamics. [PDF]

Pathogens
Makhoba XH.
europepmc   +1 more source

Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatment. [PDF]

Mol Genet Metab
Tao X, Allen B, Wilson E, Spencer J, Norris J, Van Sickle E, Benjock J, Vickery Z, Chen CF, Skinner C, Schwartz CE, Zhai RG, Boccuto L.   +12 more
europepmc   +1 more source