Results 141 to 150 of about 140,816 (272)

Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu, Hao Zhang, Chao Gao, Qiuhua Yu, Moli Fan, Lin‐Jie Zhang, Haipeng Zhang, Hengri Cong, Yuzhen Wei, Chotima Böttcher, Alexej Verkhratsky, Friedemann Paul, Fu‐Dong Shi, Tian Song   +13 more
wiley   +1 more source

Host genetics maps to behaviour and brain structure in developmental mice

Behavioral and Brain Functions
Gene-environment interactions in the postnatal period have a long-term impact on neurodevelopment. To effectively assess neurodevelopment in the mouse, we developed a behavioural pipeline that incorporates several validated behavioural tests to measure ...
Sarah Asbury, Jonathan K. Y. Lai, Kelly C. Rilett, Zeeshan Haqqee, Benjamin C. Darwin, Jacob Ellegood, Jason P. Lerch, Jane A. Foster   +7 more
doaj   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Determination of Sulfotransferase Forms Involved in the Metabolic Activation of the Genotoxicant 1-Hydroxymethylpyrene Using Bacterially Expressed Enzymes and Genetically Modified Mouse Models

, 2014
Carolin Bendadani, Walter Meinl, Bernhard H. Monien, Gisela Dobbernack, Simone Florian, Wolfram Engst, Tobias Nolden, Heinz Himmelbauer, Hansruedi Glatt   +8 more
openalex   +1 more source

354. Genetically Modified Human Mesenchymal Stromal Cell (MSC) Delivery Improved Glucose Tolerance in Diet Induced Obese (DIO) Mouse Models [PDF]

, 2016
Cleyton C. Domingues, Nabanita Kundu, Neeki Ahmadi, Sabyasachi Sen   +3 more
openalex   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Genetic background modifies CNS‐mediated sensorimotor decline in the AD‐BXD mouse model of genetic diversity in Alzheimer's disease [PDF]

, 2019
Kristen M.S. O’Connell, Andrew Ouellette, Sarah M. Neuner, Amy R. Dunn, Catherine C. Kaczorowski   +4 more
openalex   +1 more source

Development of novel immunocompetent genetically modified metastatic mouse bladder cancer models

, 2023
M. Perez Escavy, Ester Munera-Maravilla, Cristian Suárez Cabrera, V. Traconis, Carolina Rubio, Sandra P Nunes, Iris Lodewijk, Victor Martínez, Leslie C. Amorós Morales, Marta Dueñas, Jesús M. Paramio   +10 more
openalex   +1 more source

Activation of NF‐κB Signaling by Optogenetic Clustering of IKKα and β

Advanced Biology, EarlyView.
This study presents an optogenetic approach for graded clustering of eGFP‐fused proteins using an eGFP‐specific nanobody and engineered Cryptochrome 2 variants. The method enables potent, reversible activation of NF‐κB signaling via endogenous pathways, as confirmed by RNA sequencing. This versatile system provides a spatially and temporally controlled
Alexandra Anna Maria Fischer, Markus Michael Kramer, Miguel Baños, Merlin Moritz Grimm, Manfred Fliegauf, Bodo Grimbacher, Gerald Radziwill, Sven Rahmann, Wilfried Weber   +8 more
wiley   +1 more source

Altered balance of excitatory and inhibitory learning in a genetically modified mouse model of glutamatergic dysfunction relevant to schizophrenia. [PDF]

Sci Rep, 2017
Sanderson DJ, Lee A, Sprengel R, Seeburg PH, Harrison PJ, Bannerman DM.   +5 more
europepmc   +1 more source