Results 41 to 50 of about 2,310,068 (246)

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

Frontiers in Integrative Neuroscience, 2020
Rett syndrome (RTT, OMIM 312750), a severe neurodevelopmental disorder characterized by regression with loss of spoken language and hand skills, development of characteristic hand stereotypies, and gait dysfunction, is primarily caused by de novo ...
Jeffrey L. Neul, Jeffrey L. Neul, Jeffrey L. Neul, Steven A. Skinner, Fran Annese, Jane Lane, Peter Heydemann, Mary Jones, Walter E. Kaufmann, Daniel G. Glaze, Alan K. Percy   +10 more
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

Generation of a Yeast Cell Model Potentially Useful to Identify the Mammalian Mitochondrial N-Acetylglutamate Transporter

Biomolecules, 2023
The human mitochondrial carrier family (MCF) consists of 53 members. Approximately one-fifth of them are still orphans of a function. Most mitochondrial transporters have been functionally characterized by reconstituting the bacterially expressed protein
Ruggiero Gorgoglione, Roberta Seccia, Amer Ahmed, Angelo Vozza, Loredana Capobianco, Alessia Lodi, Federica Marra, Eleonora Paradies, Luigi Palmieri, Vincenzo Coppola, Vincenza Dolce, Giuseppe Fiermonte   +11 more
doaj   +1 more source

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

FEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard, Emma‐Jayne Proctor, Jiawa Wang, Nikolas P. Johnston, Andrew Hayes, Georgia McCorkell, Haibo Yu, Jai Tree, Mark R. Davies, Mark J. Walker, Ronald Sluyter, Stephan Brouwer, Martina L. Sanderson‐Smith   +12 more
wiley   +1 more source

Importin 7 mediates the nuclear import of HIV‐1 integrase via a specific interacting interface

FEBS Open Bio, EarlyView.
HIV‐1 integrase enables viral DNA integration into the host genome. By binding to the core domain of the host protein Importin 7 via its C‐terminal domain, the integrase is transported across the nuclear membrane into the nucleus, where integration of the viral genome into host DNA takes place. This translocation is a critical step for subsequent viral
Juana Bana, Avigail Yariv, Tal Oppenheim, Hadar Amartely, Dana Reichmann, Oded Livnah   +5 more
wiley   +1 more source

A novel prognostic model based on urea cycle-related gene signature for colorectal cancer

Frontiers in Surgery, 2022
BackgroundColorectal cancer (CRC) is the second leading cause of cancer-related deaths in the world. This study aimed to develop a urea cycle (UC)-related gene signature that provides a theoretical foundation for the prognosis and treatment of patients ...
Haiyang Guo, Yuanbiao Wang, Lei Gou, Xiaobo Wang, Yong Tang, Xianfei Wang   +5 more
doaj   +1 more source

Increased metabolites of ornithine/citrulline metabolism in SAMS cases are consistent with impaired urea cycle pathway.

, 2023
Arrows indicate increased expression of specific urea cycle intermediates.
Claire L. Simpson (14951490), Joy Guingab (542835), Timothy J. Garrett (7418819), Gregory Farage (11013878), Rajendra Raghow (4330738), Saunak Sen (156466), Michelle A. Puchowicz (1991425), Logan M. Buchanan (17655859), Marshall B. Elam (4330747), Richard Childress (17655853), Elizabeth C. Brogdon (17655856), Edwards A. Park (17655850), Qingming Dong (5734967)   +12 more
core   +1 more source

The C‐terminal truncated splicing variant of NK1R negatively modulates substance P‐stimulated NK1R signaling

FEBS Open Bio, EarlyView.
The neurokinin 1 receptor exists as full‐length (NK1L) and C‐terminally truncated (NK1S) splice variants. We show that NK1S heterodimerizes with NK1L, impairing Gαq coupling and Ca2+ mobilization while enhancing β‐arrestin1 recruitment. NK1S suppresses substance P‐driven gene expression and cell migration, revealing NK1S as an endogenous biased ...
Lan Phuong Nguyen, Duc Trung Nguyen, Minyoung Cho, Jihun Kim, Soyeon In, Thai Uy Nguyen, Sunghoon Hurh, Beom Jin Park, Jong‐Ik Hwang   +8 more
wiley   +1 more source

Role of ureolytic activity in Bacillus cereus nitrogen metabolism and acid survival [PDF]

, 2008
The presence and activities of urease genes were investigated in 49 clinical, food, and environmental Bacillus cereus isolates. Ten strains were shown to have urease genes, with eight of these strains showing growth on urea as the sole nitrogen source ...
Abee, T., Mols, J.M.
core   +1 more source