Results 51 to 60 of about 201,093 (287)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Characterization of Hantavirus N Protein Intracellular Dynamics and Localization

Viruses, 2022
Hantaviruses are enveloped viruses that possess a tri-segmented, negative-sense RNA genome. The viral S-segment encodes the multifunctional nucleocapsid protein (N), which is involved in genome packaging, intracellular protein transport, immunoregulation,
Robert-William Welke, Hannah Sabeth Sperber, Ronny Bergmann, Amit Koikkarah, Laura Menke, Christian Sieben, Detlev H. Krüger, Salvatore Chiantia, Andreas Herrmann, Roland Schwarzer   +9 more
doaj   +1 more source

Supramolecular Complexation of \u3cem\u3eN\u3c/em\u3e-Alkyl- and \u3cem\u3eN\u3c/em\u3e,\u3cem\u3eN\u3c/em\u3e′-Dialkylpiperazines with Cucurbit[6]uril in Aqueous Solution and in the Solid State [PDF]

, 2009
Water seeds: Complex stoichiometry/composition and degree of oligomerization (oligomeric supramolecular complex formation) of cucurbit[6]uril (CB[6]) with N-alkyl- and N,N′-dialkylpiperazine were investigated in aqueous solutions by means of isothermal ...
Inoue, Yoshihisa, Kim, Kimoon, Ko, Young Ho, Lindeman, Sergey V., Mori, Tadashi, Rathore, Rajendra, Rekharsky, Mikhail V., Sato, Akihiro, Selvapalam, Narayanan, Shiba, Kouhei, Shiro, Motoo, Yamamura, Hatsuo   +11 more
core   +1 more source

A novel inhibitor of p75-neurotrophin receptor improves functional outcomes in two models of traumatic brain injury. [PDF]

, 2016
The p75 neurotrophin receptor is important in multiple physiological actions including neuronal survival and neurite outgrowth during development, and after central nervous system injury.
Alam, Antoine, Arnone, Michele, Baroni, Marco, Beattie, Michael S, Bono, Françoise, Bresnahan, Jacqueline C, Canolle, Benoit, Castel, Marie-Noelle, Delbary-Gossart, Sandrine, Delesque-Touchard, Nathalie, Ferguson, Adam R, Ferzaz, Badia, Herbert, Jean-Marc, Laboudie, Patricia, Lamarche, Isabelle, Lee, Sangmi, Lin, Amity, Manley, Geoffrey T, Sacramento, Jeffrey, Salegio, Ernesto A, Savi, Pierre   +20 more
core   +1 more source

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

Molecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués, Aracele Martinez‐Mendez, John Crown, Alex Eustace   +3 more
wiley   +1 more source

Insights from the Structure of an Active Form of Bacillus thuringiensis Cry5B

Toxins, 2022
The crystal protein Cry5B, a pore-forming protein produced by the soil bacterium Bacillus thuringiensis, has been demonstrated to have excellent anthelmintic activity.
Jiaxin Li, Lin Wang, Masayo Kotaka, Marianne M. Lee, Michael K. Chan   +4 more
doaj   +1 more source

Engineering tandem VHHs to target different epitopes to enhance antibody‐dependent cell‐mediated cytotoxicity

FEBS Open Bio, EarlyView.
Tandem VHH targeting distinct EGFR epitopes were engineered into a monovalent bispecific antibody (7D12‐EGA1‐Fc) with more potent ADCC without increasing affinity to EGFR. Structural modeling of 7D12‐EGA1‐Fc showed cross‐linking of separate EGFR domains to enhance CD16a engagement on NK cells.
Yuqiang Xu, Hao Jiang, Limin Chen, Fulai Zhou, Ying Jin, Mark L. Chiu   +5 more
wiley   +1 more source

Structural basis of IRGB10 oligomerization by GTP hydrolysis

Frontiers in Immunology, 2023
Immunity-related GTPase B10 (IRGB10) is a crucial member of the interferon (IFN)-inducible GTPases and plays a vital role in host defense mechanisms.
Hyun Ji Ha, Ju Hyeong Kim, Ju Hyeong Kim, Gwan Hee Lee, Gwan Hee Lee, Subin Kim, Subin Kim, Hyun Ho Park, Hyun Ho Park   +8 more
doaj   +1 more source

Structure of the PII signal transduction protein of Neisseria meningitidis at 1.85 Ȃ resolution [PDF]

, 2006
Copyright @ 2006 International Union of CrystallographyThe PII signal transduction proteins GlnB and GlnK are implicated in the regulation of nitrogen assimilation in Escherichia coli and other enteric bacteria.
Alderton, D, Berrow, NS, Nichols, CE, Owens, RJ, Sainsbury, S, Saunders, NJ, Stammers, DK   +6 more
core   +1 more source