Results 91 to 100 of about 9,308 (197)

CURE ID: A Platform to Collect Real‐World Treatment Data for Drug Repurposing in Rare Genetic Disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 3, Page 189-193, September 2025.
ABSTRACT Rare diseases collectively affect millions of Americans, but less than 5% have approved treatments, and new drug development remains limited. For such diseases, drug repurposing may be an effective strategy to find new treatment options. In the rare genetic disorder community, drugs are frequently prescribed off‐label.
Tahsin Farid, Maura R. Z. Ruzhnikov, Mili Duggal, Keyla C. Tumas, Shira Strongin, Eric Sid, Sarah R. Fuchs, Leonard Sacks, Dominique C. Pichard, Catherine Pilgrim‐Grayson, Ewy A. Mathé, Heather A. Stone   +11 more
wiley   +1 more source

Inhibition of Prenylation Promotes Caspase 3 Activation, Lamin B Degradation and Loss in Metabolic Cell Viability in Pancreatic β-Cells

Cellular Physiology and Biochemistry, 2017
Background/Aims: Lamins are intermediate filament proteins that constitute the main components of the lamina underlying the inner-nuclear membrane and serve to organize chromatin.
Khadija G. Syeda, Anjan Kowluru
doaj   +1 more source

Characterization of cytoplasmic cyclin D1 as a marker of invasiveness in cancer [PDF]

, 2016
Cyclin D1 (Ccnd1) is a proto-oncogen amplified in many different cancers and nuclear accumulation of Ccnd1 is a characteristic of tumor cells. Ccnd1 activates the transcription of a large set of genes involved in cell cycle progress and proliferation.
Castelblanco Echavarría, Esmeralda, Cemeli, Tània, Dolcet Roca, Xavier, Felip, Isidre, Fernández Hernández, Rita, Ferrezuelo, Francisco, Garí Marsol, Eloi, Gatius Calderó, Sònia, Matias-Guiu, Xavier, Pallares, Judit, Pedraza González, Neus, Pérez Fusté, Noel, Santacana Espasa, Maria, Tarrés Escalona, Marc, Valls Marsal, Joan   +14 more
core   +1 more source

Patient‐Derived Cortical Organoids Reveal Senescence of Neural Progenitor Cells in Hutchinson‐Gilford Progeria Syndrome

Aging Cell, Volume 24, Issue 9, September 2025.
HGPS patient‐derived cortical organoids exhibit progerin accumulation, nuclear abnormalities, and increased senescence in rosette structures, leading to impaired neuronal differentiation and altered gene expression. ABSTRACT Hutchinson‐Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by premature aging and primarily caused by ...
Seeun Jeon, Chul‐Sung Park, Juyoung Hong, Jieun Kim, Yun Jin Lee, Junho K. Hur, Ji Yeoun Lee   +6 more
wiley   +1 more source

Divergent evolution of Di-lysine ER retention vs. farnesylation motif-mediated anchoring of the AnkB virulence effector to the Legionella-containing vacuolar membrane

Scientific Reports, 2017
Within macrophages and amoeba, the Legionella-containing vacuole (LCV) membrane is derived from the ER. The bona fide F-box AnkB effector protein of L.
John D. Perpich, Awdhesh Kalia, Christopher T. D. Price, Snake C. Jones, Kathy Wong, Kalle Gehring, Yousef Abu Kwaik   +6 more
doaj   +1 more source

Reversible inactivation of the transcriptional function of P53 protein by farnesylation

BMC Biotechnology, 2006
Background The use of integrating viral vectors in Gene therapy clinical trials has pointed out the problem of the deleterous effect of the integration of the ectopic gene to the cellular genome and the safety of this strategy.
Berg Danièle, Casteignau Antoine, Pradines Anne, Tohfe Mustapha, Penary Marie, Couderc Bettina, Favre Gilles   +6 more
doaj   +1 more source

Relative Contributions of Prenylation and Postprenylation Processing in Cryptococcus neoformans Pathogenesis

mSphere, 2016
Prenyltransferase enzymes promote the membrane localization of their target proteins by directing the attachment of a hydrophobic lipid group at a conserved C-terminal CAAX motif.
Shannon K. Esher, Kyla S. Ost, Lukasz Kozubowski, Dong-Hoon Yang, Min Su Kim, Yong-Sun Bahn, J. Andrew Alspaugh, Connie B. Nichols   +7 more
doaj   +1 more source

PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity [PDF]

, 2016
The phosphodiesterase 6 delta subunit (PDE6δ) shuttles several farnesylated cargos between membranes. The cargo sorting mechanism between cilia and other compartments is not understood.
Fansa, Eyad Kalawy, Ismail, Shehab, Kösling, Stefanie Kristine, Wittinghofer, Alfred, Zent, Eldar   +4 more
core   +1 more source

Metabolic Stress Induces Caspase-3 Mediated Degradation and Inactivation of Farnesyl and Geranylgeranyl Transferase Activities in Pancreatic β-Cells

Cellular Physiology and Biochemistry, 2016
Background/Aims: At least 300 prenylated proteins are identified in the human genome; the majority of which partake in a variety of cellular processes including growth, differentiation, cytoskeletal organization/dynamics and vesicle trafficking. Aberrant
Rajakrishnan Veluthakal, Daleep K. Arora, Marc L. Goalstone, Renu A. Kowluru, Anjaneyulu Kowluru   +4 more
doaj   +1 more source

THz in biology and medicine: toward quantifying and understanding the interaction of millimeter- and submillimeter-waves with cells and cell processes [PDF]

, 2010
As the application and commercial use of millimeter- and submillimeter-wavelength radiation become more widespread, there is a growing need to understand and quantify both the coupling mechanisms and the impact of this long wavelength energy on ...
Pikov, Victor, Siegel, Peter H.
core   +1 more source