Results 81 to 90 of about 3,047 (190)

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation [PDF]

, 2014
OBJECTIVE: Much of the genetic basis for Alzheimer disease (AD) is unexplained. We sought to identify novel AD loci using a unique family-based approach that can detect robust associations with infrequent variants (minor allele frequency < 0.10). METHODS:
Abraham, Carmela R., Asai, Hirohide, Buxbaum, Joseph D., Chen, CiDi, Chung, Jaeyoon, Drapeau, Elodie, Farrer, Lindsay A., Foroud, Tatiana, Haines, Jonathan L., Haroutunian, Vahram, Ikezu, Tsuneya, Jun, Gyungah, Kim, Jong-Won, Kim, Sehwa, Kuwano, Ryozo, Lunetta, Kathryn L., Mayeux, Richard, Park, Jong-Ho, Pericak-Vance, Margaret A., Schellenberg, Gerard D., Zeldich, Ella   +20 more
core   +1 more source

O-GlcNAcase contributes to cognitive function in Drosophila [PDF]

, 2020
Contains fulltext : 219183.pdf (publisher's version ) (Open ...
Catinozzi, Marica, Eidhof, Ilse, Fenckova, Michaela, Ferenbach, Andrew, Muha, Villo, Schenck, Annette, Storkebaum, Erik, van Aalten, Daan   +7 more
core   +3 more sources

CRMP2 and voltage-gated ion channels: potential roles in neuropathic pain [PDF]

Neuronal Signaling, 2018
Neuropathic pain represents a significant and mounting burden on patients and society at large. Management of neuropathic pain, however, is both intricate and challenging, exacerbated by the limited quantity and quality of clinically available treatments. On this stage, dysfunctional voltage-gated ion channels, especially the presynaptic N-type voltage-
Chew, Lindsey A., Khanna, Rajesh
openaire   +2 more sources

Expanding the Phenotype of CYFIP2‐Related Developmental Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, Volume 3, Issue 4, Page 314-323, December 2025.
ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire, Jenna K. Lea, Zheng (Jane) Fan, Senyene E. Hunter   +3 more
wiley   +1 more source

Dysregulation of CRMP2 Post-Translational Modifications Drive Its Pathological Functions

Molecular Neurobiology, 2019
Collapsin response mediator proteins (CRMPs) are a family of ubiquitously expressed, homologous phosphoproteins best known for coordinating cytoskeletal formation and regulating cellular division, migration, polarity, and synaptic connection. CRMP2, the most studied of the five family members, is best known for its affinity for tubulin heterodimers and
Aubin Moutal, Katherine A. White, Aude Chefdeville, Rachel N. Laufmann, Peter F. Vitiello, Douglas Feinstein, Jill M. Weimer, Rajesh Khanna   +7 more
openaire   +3 more sources

Proteomic analysis of the action of the Mycobacterium ulcerans toxin mycolactone: targeting host cells cytoskeleton and collagen [PDF]

, 2014
Buruli ulcer (BU) is a neglected tropical disease caused by Mycobacterium ulcerans. The tissue damage characteristic of BU lesions is known to be driven by the secretion of the potent lipidic exotoxin mycolactone.
A Andreoli, A Mve-Obiang, AA Pahlevan, AG Fraga, Alexandra G. Fraga, AU Luthi, B Belletti, B Ravikumar, Belém Sampaio-Marques, BS Hall, BW Bernstein, C Fung, D Meiri, DE Ellen, DH Connor, DH Connor, DJ Klionsky, DJ Klionsky, DP Berry, DS Snyder, E Coutanceau, E Marion, E Torrado, E Torrado, E Torrado, EF Schmidt, F Nackers, F Portaels, Fernanda Proença, FS Sarfo, H Hong, HP Ehrlich, HP Ehrlich, I Tanida, J Guarner, JK Clancey, JL Webb, Jorge Pedrosa, José B. Gama, K Kibadi, KM George, KM George, KM George, L Gong, L Guenin-Mace, L Marsollier, L Marsollier, L Marsollier, M Songane, M Yamauchi, Manuel T. Silva, Maria A. Carvalho, MS Oliveira, MT Silva, OG Dodge, P MacCallum, Pamela L. C. Small, Paula Ludovico, R Sumpter Jr, RW Merritt, S Adusumilli, S Buktenica, S Ohlmeier, SM Krane, Steffen Ohlmeier, Teresa G. Martins, TP Stinear, TY Quek, V Deretic, VI Korolchuk, VJ Allan   +70 more
core   +1 more source

Synaptic and Non‐Synaptic Functions of PTPRD: A Receptor Tyrosine Phosphatase at the Crossroads of Neural Circuitry and Metabolism

Journal of Neurochemistry, Volume 169, Issue 11, November 2025.
PTPRD (receptor‐type protein tyrosine phosphatase delta) translates extracellular adhesion “codes” into intracellular phosphotyrosine signaling that shapes brain circuits. Alternative inclusion of micro‐exons meA and meB sculpts PTPRD's Ig domain, dictating trans‐synaptic binding to partners such as IL1RAPL1 or IL1RAP and thereby tuning synapse ...
Seoyeong Kim, Jae Jin Shin, Muwon Kang, Yunho Yi, Eunjoon Kim   +4 more
wiley   +1 more source

Regulation of plasma membrane expansion during axon formation [PDF]

, 2018
Here, will review current evidence regarding the signaling pathways and mechanisms underlying membrane addition at sites of active growth during axon formation.Fil: Quiroga, Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas.
Bisbal, Mariano, Caceres, Alfredo Oscar, Quiroga, Santiago   +2 more
core   +1 more source

Structural Insights into the Altering Function of CRMP2 by Phosphorylation

Cell Structure and Function, 2018
Collapsin response mediator protein 2 (CRMP2) regulates neuronal polarity by controlling microtubule dynamics. CRMP2 activity is regulated by semaphorin-induced phosphorylation at the C-terminal tail domain. Unphosphorylated CRMP2 induces effective axonal microtubule formation to give the axonal characteristics to a neurite, whereas phosphorylated ...
Sumi, Takuya, Imasaki, Tsuyoshi, Aoki, Mari, Sakai, Naoki, Nitta, Eriko, Shirouzu, Mikako, Nitta, Ryo   +6 more
openaire   +3 more sources

Glucose Metabolic Reprogramming in Colorectal Cancer: From Mechanisms to Targeted Therapy Approaches

Cancer Medicine, Volume 14, Issue 17, September 2025.
ABSTRACT Background Colorectal cancer (CRC) is one of the most common malignant tumors, and its morbidity ranks third among all cancers, with a trend toward younger patients. Metabolic reprogramming, a unique metabolic mode in tumor cells, is closely related to the occurrence and development of CRC. Numerous studies have confirmed that many genetic and
Runkai Zhou, Fazhi Wang, Jiazhe Wen, Xuefeng Zhou, Yugang Wen   +4 more
wiley   +1 more source