Results 1 to 10 of about 1,842,059 (303)

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? [PDF]

, 2016
LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular ...
A Brancaccio, A von Renesse, A Yoshida, AK Marrone, AM Beedle, AS Pawlisz, Atsushi Asakura, B Constantin, C Whitmore, CJ Moore, D Beltran-Valero de Bernabe, D. J. Wells, DE Michele, DJ Lefeber, E. Lacey, EL McDearmon, F Saito, H. Booler, J Liu, J van Reeuwijk, J. C. W. Hildyard, JM Ervasti, JS Satz, K Kobayashi, K Koehler, KG Meilleur, KJ Carss, KM Wright, LT Guo, M Bozzi, M Brockington, M Kanagawa, M Ogawa, M. Hopkinson, MD Henry, MD Henry, MM Goddeeris, MR Ackroyd, MR Ackroyd, MT Garcia-Silva, O Ibraghimov-Beskrovnaya, O Thompson, P Zhang, PJ Holzfeind, PK Grewal, R Barone, R Barresi, R Shaheen, S Sugita, S Vuillaumier-Barrot, S. C. Brown, T Roscioli, T Toda, T Willer, Y Omori   +54 more
core   +25 more sources

Alpha-synuclein and transgenic mouse models

Neurobiology of Disease, 2004
Identified as the cause of some familial forms of Parkinson disease (PD) and as one of the major component of Lewy bodies, alpha-synuclein (α-syn) became the molecular hallmark of several neurodegenerative conditions now designated as synucleinopathies ...
Pierre-Olivier Fernagut, Marie-Françoise Chesselet   +1 more
doaj   +3 more sources

Immobilization of modular peptides on graphene cocktail for differentiation of human mesenchymal stem cells to hepatic-like cells

Frontiers in Chemistry, 2022
In this study, two novel biomimetic modular peptide motifs based on the alpha-2 subunit of type IV collagen (CO4A2) were designed and immobilized on a graphene platform to imitate integrin and heparan sulfate- (HS-) binding proteins.
Behzad Adibi-Motlagh, Behzad Adibi-Motlagh, Ehsan Hashemi, Ehsan Hashemi, Omid Akhavan, Omid Akhavan, Jafar Khezri, Aram Rezaei, Javad Zamani Amir Zakria, Seyed Davar Siadat, Abbas Sahebghadam Lotfi, Abbas Farmany, Abbas Farmany   +12 more
doaj   +1 more source

The association between TIPARP gene polymorphisms rs2665390 and ovarian cancer susceptibility

Gynecologic Oncology Reports, 2023
Background: Ovarian cancer is taken as the most typical malignancy among women and the ninth most typical cancer in Iran. Predictive tools are of great importance as ovarian cancer is usually detected in patients at later stages of the disease.
Maryam vahidi, Massoud Houshmand, Mahdieh Banoei, Farid Heidari   +3 more
doaj   +1 more source

A Trem2 R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques

Molecular Neurodegeneration, 2023
Background The TREM2 R47H variant is one of the strongest genetic risk factors for late-onset Alzheimer’s Disease (AD). Unfortunately, many current Trem2 R47H mouse models are associated with cryptic mRNA splicing of the mutant allele that produces a ...
Kristine M. Tran, Shimako Kawauchi, Enikö A. Kramár, Narges Rezaie, Heidi Yahan Liang, Jasmine S. Sakr, Angela Gomez-Arboledas, Miguel A. Arreola, Celia da Cunha, Jimmy Phan, Shuling Wang, Sherilyn Collins, Amber Walker, Kai-Xuan Shi, Jonathan Neumann, Ghassan Filimban, Zechuan Shi, Giedre Milinkeviciute, Dominic I. Javonillo, Katelynn Tran, Magdalena Gantuz, Stefania Forner, Vivek Swarup, Andrea J. Tenner, Frank M. LaFerla, Marcelo A. Wood, Ali Mortazavi, Grant R. MacGregor, Kim N. Green   +28 more
doaj   +1 more source

Systematic phenotyping and characterization of the 5xFAD mouse model of Alzheimer’s disease

Scientific Data, 2021
Measurement(s) Protein Expression • gene expression • electrophysiology data • protein measurement • behavior Technology Type(s) immunofluorescence microscopy assay • RNA sequencing • electrophysiology assay • Electrochemiluminescence Immunoassay ...
Stefania Forner, Shimako Kawauchi, Gabriela Balderrama-Gutierrez, Enikö A. Kramár, Dina P. Matheos, Jimmy Phan, Dominic I. Javonillo, Kristine M. Tran, Edna Hingco, Celia da Cunha, Narges Rezaie, Joshua A. Alcantara, David Baglietto-Vargas, Camden Jansen, Jonathan Neumann, Marcelo A. Wood, Grant R. MacGregor, Ali Mortazavi, Andrea J. Tenner, Frank M. LaFerla, Kim N. Green   +20 more
doaj   +1 more source

QPCTL regulates macrophage and monocyte abundance and inflammatory signatures in the tumor microenvironment

OncoImmunology, 2022
The enzyme glutaminyl-peptide cyclotransferase-like protein (QPCTL) catalyzes the formation of pyroglutamate residues at the NH2-terminus of proteins, thereby influencing their biological properties.
Kaspar Bresser, Meike E. W. Logtenberg, Mireille Toebes, Natalie Proost, Justin Sprengers, Bjorn Siteur, Manon Boeije, Lona J. Kroese, Ton N. Schumacher   +8 more
doaj   +1 more source

Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene

Scientific Reports, 2021
Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing impairment. Several transgenic mice with different Slc26a4 variants have been generated. However, none have recapitulated the auditory phenotypes in humans.
Chin-Ju Hu, Ying-Chang Lu, Cheng-Yu Tsai, Yen-Hui Chan, Pei-Hsuan Lin, Yi-Shan Lee, I.-Shing Yu, Shu-Wha Lin, Tien-Chen Liu, Chuan-Jen Hsu, Ting-Hua Yang, Yen-Fu Cheng, Chen-Chi Wu   +12 more
doaj   +1 more source

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

Scientific Reports, 2022
Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle.
Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha, Nancy D. Dalton, Chloe Christensen, Yunghang Chan, Jeremy Davis-Turak, Jonathan Neumann, Raymond Y. Wang   +9 more
doaj   +1 more source

Inhibition of carnitine palmitoyl-transferase 1 is a potential target in a mouse model of Parkinson’s disease

npj Parkinson's Disease, 2023
Glucose metabolism is dysregulated in Parkinson’s disease (PD) causing a shift toward the metabolism of lipids. Carnitine palmitoyl-transferase 1A (CPT1A) regulates the key step in the metabolism of long-chain fatty acids.
Michael Sloth Trabjerg, Dennis Christian Andersen, Pam Huntjens, Kasper Mørk, Nikolaj Warming, Ulla Bismark Kullab, Marie-Louise Nibelius Skjønnemand, Michal Krystian Oklinski, Kirsten Egelund Oklinski, Luise Bolther, Lona J. Kroese, Colin E. J. Pritchard, Ivo J. Huijbers, Angelique Corthals, Mads Toft Søndergaard, Henrik Bech Kjeldal, Cecilie Fjord Morre Pedersen, John Dirk Vestergaard Nieland   +17 more
doaj   +1 more source