Results 111 to 120 of about 282,128 (301)

A novel mutation in isoform 3 of the plasma membrane Ca2+ pump impairs cellular Ca2+ homeostasis in a patient with cerebellar ataxia and laminin subunit 1\u3b1 mutations. [PDF]

, 2015
The particular importance of Ca2+ signaling to neurons demands its precise regulation within their cytoplasm. Isoform 3 of the plasma membrane Ca2+ ATPase (the PMCA3 pump), which is highly expressed in brain and cerebellum, plays an important role in the
Brini, Marisa, Cali', Tito, Carafoli, Ernesto, Frizzarin, Martina, Lopreiato, Raffaele, Shimony, J, Shinawi, M, Vineyard, M, Zanni, G, Zanotti, Giuseppe   +9 more
core   +1 more source

Anchorage‐independent and faster growth in clonal population from UV‐irradiated NER‐deficient cells

FEBS Open Bio, EarlyView.
UV‐irradiated cells expressing a DDB2 mutant protein unable to interact with PCNA (DDB2PCNA‐) form clones able to grow without anchorage. Different experimental approaches reveal heterogeneity in cell cycle regulation and drug response within these clones, emphasizing the crucial role of the DDB2‐PCNA interaction in preventing cellular transformation ...
Paola Perucca, Anna Tricarico, Martina Furfaro, Priyam Ghosh, Ennio Prosperi, Lucia Anna Stivala, Ornella Cazzalini   +6 more
wiley   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Meta‐analysis fails to show any correlation between protein abundance and ubiquitination changes

FEBS Open Bio, EarlyView.
We analyzed over 50 published proteomics datasets to explore the relationship between protein levels and ubiquitination changes across multiple experimental conditions and biological systems. Although ubiquitination is often associated with protein degradation, our analysis shows that changes in ubiquitination do not globally correlate with changes in ...
Nerea Osinalde, Unai Alduntzin, Gorka Prieto, Ugo Mayor   +3 more
wiley   +1 more source

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]

, 2019
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony, Donaldson, Kevin, Emrick, Lisa, Gao, Mingshi, Hou, Ya-Ming, Jiang, Yanjun, Lalani, Seema R., Landsverk, Megan L., Lee, Sansan, Lewis, Andrea M., Li, Meixia, Li, Yuxin, Lin, Jie, Lu, Jiahong, Luo, Sushan, Magoulas, Pilar L., Mei, Hui, Niu, Zhiyv, Oprescu, Stephanie N., Person, Richard E., Rosenfeld, Jill A., Slavin, Thomas P., Song, Jie, Sun, Chong, Walkiewicz, Magdalena, Wang, Yin, Xi, Jianying, Yang, Yaping, Zhang, Victor W., Zhao, Chongbo   +29 more
core   +1 more source

Analysing the significance of small conformational changes and low occupancy states in serial crystallographic data

FEBS Open Bio, EarlyView.
This protocol paper outlines methods to establish the success of a time‐resolved serial crystallographic experiment, by means of statistical analysis of timepoint data in reciprocal space and models in real space. We show how to amplify the signal from excited states to visualise structural changes in successful experiments.
Jake Hill, Yelyzaveta Pulnova, Elke De Zitter, Helen M. Ginn, Briony A. Yorke   +4 more
wiley   +1 more source

Neurotoxicity [PDF]

, 2014
Neurotoxicity refers to the direct or indirect effect of chemicals that disrupt the nervous system of humans or animals. Numerous chemicals can produce neurotoxic diseases in humans, and many more are used as experimental tools to disturb or damage the ...
Brust, Creeley, Feldman, Grandjean, Herken, Panzica, Parent, Pessah, Rice, Román, Spencer, Spencer, Tu, Vinken, Yasui, Zawia   +15 more
core   +2 more sources

Digital twins to accelerate target identification and drug development for immune‐mediated disorders

FEBS Open Bio, EarlyView.
Digital twins integrate patient‐derived molecular and clinical data into personalised computational models that simulate disease mechanisms. They enable rapid identification and validation of therapeutic targets, prediction of drug responses, and prioritisation of candidate interventions.
Anna Niarakis, Philippe Moingeon
wiley   +1 more source

Perinatal insults and neurodevelopmental disorders may impact Huntington's disease age of diagnosis [PDF]

, 2018
Introduction: The age of diagnosis of Huntington's disease (HD) varies among individuals with the same HTT CAG-repeat expansion size. We investigated whether early-life events, like perinatal insults or neurodevelopmental disorders, influence the ...
Anderson, Dg, Barkhuizen, M, Ferraldeschi, M, Gavilanes, Awd., Kramer, Bw, REGISTRY Investigators of the European Huntington's Disease, Network, Ristori, G, Rodrigues, Fb, Romano, S, Wild, Ej, Winkens, B   +10 more
core   +1 more source

Emerging insights into CC and CXC chemokines and their receptors in Mycobacterium tuberculosis infection

FEBS Open Bio, EarlyView.
The dual roles of CC and CXC chemokines in distinguishing active, latent, and subclinical tuberculosis were reviewed, along with an evaluation of their potential as diagnostic biomarkers and therapeutic targets to advance precision medicine in tuberculosis management. The graphical abstract was generated with AI assistance (Gemini 3.0).
Xuying Yin, Dangsheng Xiao, Jiezuan Yang
wiley   +1 more source