Results 31 to 40 of about 1,264 (145)

Caracterización de la interacción entre Stbd1 y Laforina. Determinación de su posible papel para el desarrollo de la enfermedad de Lafora [PDF]

, 2015
[ES] La línea fundamental de trabajo de este laboratorio consiste en la caracterización molecular de rutas fisiológicas alteradas en la enfermedad de Lafora, así como posibles tratamientos de la enfermedad. La enfermedad de Lafora (LD. OMIM 254780) es una enfermedad neurodegenerativa autosómica recesiva que conlleva epilepsia mioclónica progresiva y ...
García Castiglioni, María Victoria
openaire   +3 more sources

Novel method for detection of glycogen in cells [PDF]

Glycobiology, 2017
Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive accumulation, can be caused genetically, most often through mutation of the enzymes directly ...
A. V. Skurat, Dyann M. Segvich, A. DePaoli-Roach, P. Roach   +3 more
semanticscholar   +3 more sources

ALTEN: A High‐Fidelity Primary Tissue‐Engineering Platform to Assess Cellular Responses Ex Vivo

Advanced Science, Volume 9, Issue 21, July 25, 2022., 2022
Alginate‐based tissue engineering (ALTEN) enables three‐dimensional (3D) ex vivo culture of explanted tissue biopsies. This method recapitulates the original characteristics of the source tissue's cellular niches with high‐fidelity, including cellular diversity, extracellular matrix (ECM), and their molecular milieu.
Andrew M. K. Law, Jiamin Chen, Yolanda Colino‐Sanguino, Laura Rodriguez de la Fuente, Guocheng Fang, Susan M. Grimes, Hongxu Lu, Robert J. Huang, Sarah T. Boyle, Jeron Venhuizen, Lesley Castillo, Javad Tavakoli, Joanna N. Skhinas, Ewan K. A. Millar, Julia Beretov, Fernando J. Rossello, Joanne L. Tipper, Christopher J. Ormandy, Michael S. Samuel, Thomas R. Cox, Luciano Martelotto, Dayong Jin, Fatima Valdes‐Mora, Hanlee P. Ji, David Gallego‐Ortega   +24 more
wiley   +1 more source

Establishing the role of rare coding variants in known Parkinson's disease risk loci [PDF]

, 2017
Many common genetic factors have been identified to contribute to Parkinson's disease (PD) susceptibility, improving our understanding of the related underlying biological mechanisms.
Brice, A, Gasser, T, Gibbs, JR, Hardy, J, Heutink, P, Int Parkinsons Genomics, C, Jansen, IE, Kraaij, Robert, Lubbe, S, Morris, HR, Nalls, MA, Price, T R, Sharma, M, Singleton, AB, Uitterlinden, André, van Rooij, J, Williams, NM, Wood, NW   +17 more
core   +6 more sources

A chromosome‐level genome of Antechinus flavipes provides a reference for an Australian marsupial genus with male death after mating

Molecular Ecology Resources, Volume 22, Issue 2, Page 740-754, February 2022., 2022
Abstract The 15 species of small carnivorous marsupials that comprise the genus Antechinus exhibit semelparity, a rare life‐history strategy in mammals where synchronized death occurs after one breeding season. Antechinus males, but not females, age rapidly (demonstrate organismal senescence) during the breeding season and show promise as new animal ...
Ran Tian, Kai Han, Yuepan Geng, Chen Yang, Chengcheng Shi, Patrick B. Thomas, Coral Pearce, Kate Moffatt, Siming Ma, Shixia Xu, Guang Yang, Xuming Zhou, Vadim N. Gladyshev, Xin Liu, Diana O. Fisher, Lisa K. Chopin, Natália O. Leiner, Andrew M. Baker, Guangyi Fan, Inge Seim   +19 more
wiley   +1 more source

A gene network of uterine luminal epithelium organizes mouse blastocyst implantation

Reproductive Medicine and Biology, Volume 21, Issue 1, January/December 2022., 2022
Abstract Purpose The receptive endometrium is critical for blastocyst implantation. In mice, after blastocysts enter the uterine cavities on day 4 of pregnancy (day 1 = vaginal plug), blastocyst attachment is completed within 24 h, accompanied by dynamic interactions between the uterine luminal epithelium and the blastocysts.
Shizu Aikawa, Yasushi Hirota, Yamato Fukui, Chihiro Ishizawa, Rei IIda, Tetsuaki Kaku, Tomoyuki Hirata, Shun Akaeda, Takehiro Hiraoka, Mitsunori Matsuo, Yutaka Osuga   +10 more
wiley   +1 more source

A guide to the regulation of selective autophagy receptors

The FEBS Journal, Volume 289, Issue 1, Page 75-89, January 2022., 2022
Selective autophagy receptors are essential for bridging the cellular cargo destined for degradation with autophagy machinery. As such, their role in autophagy is strictly regulated. In this review, we outline and discuss post‐translational (phosphorylation, ubiquitination, acetylation) and structural (oligomerisation) modifications involved in ...
Andrea Gubas, Ivan Dikic
wiley   +1 more source

Bioinformatics Analysis Identifies TNFRSF1A as a Biomarker of Liver Injury in Sepsis TNFRSF1A is a Biomarker for Septic Liver Injury

Genetics Research , Volume 2022, Issue 1, 2022., 2022
Sepsis is a severe disease with high mortality, and liver injury is an independent risk factor for sepsis morbidity and mortality. We analyzed co‐differentially expressed genes (co‐DEGs) to explore potential biomarkers and therapeutic targets for sepsis‐related liver injury.
Shangxun Zhou, Wei Zhao, Junjie Li, Yang Huang, Jing Yang, Qianmei Wang, Yunyun Xu, Chujun Duan, Yutong Wang, Wen Yin, Qiuhong Xiong   +10 more
wiley   +1 more source

Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR‐associated protein 9–Mediated Gene Editing

Hepatology, Volume 74, Issue 5, Page 2491-2507, November 2021., 2021
Background and Aims Patients with glycogen storage disease type 1a (GSD‐1a) primarily present with life‐threatening hypoglycemia and display severe liver disease characterized by hepatomegaly. Despite strict dietary management, long‐term complications still occur, such as liver tumor development.
Martijn G.S. Rutten, Terry G.J. Derks, Nicolette C.A. Huijkman, Trijnie Bos, Niels J. Kloosterhuis, Kees C.W.A. van de Kolk, Justina C. Wolters, Mirjam H. Koster, Laura Bongiovanni, Rachel E. Thomas, Alain de Bruin, Bart van de Sluis, Maaike H. Oosterveer   +12 more
wiley   +1 more source

Gene Signatures for Latent Radiation-Induced Lung Injury Post X-ray Exposure in Mouse

Dose-Response, 2023
Objective To investigate the X-ray-specific sensitive genes and potential signaling pathways involved in the latent period of radiation-induced lung injury (RILI) in mouse models.
Tongtong Zhang, Zhaoming Zhou, Lei Wen, Changguo Shan, Mingyao Lai, Jing Liao, Xin Zeng, Gang Yan, Linbo Cai, Meijuan Zhou, Minghua Wang   +10 more
doaj   +1 more source