The fibroblast growth factor signaling pathway

DM Ornitz, N Itoh - Wiley Interdisciplinary Reviews …, 2015 - Wiley Online Library
The signaling component of the mammalian Fibroblast Growth Factor (FGF) family is
comprised of eighteen secreted proteins that interact with four signaling tyrosine kinase FGF …

Cellular signaling by fibroblast growth factor receptors

VP Eswarakumar, I Lax, J Schlessinger - Cytokine & growth factor reviews, 2005 - Elsevier
The 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their
cellular responses by binding to and activating the different isoforms encoded by the four …

[HTML][HTML] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

D Pellerin, MC Danzi, C Wilke, M Renaud… - … England Journal of …, 2023 - Mass Medical Soc
Background The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant …

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

H Rafehi, J Read, DJ Szmulewicz, KC Davies… - The American Journal of …, 2023 - cell.com
Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

Receptor specificity of the fibroblast growth factor family: the complete mammalian FGF family

X Zhang, OA Ibrahimi, SK Olsen, H Umemori… - Journal of Biological …, 2006 - ASBMB
In mammals, fibroblast growth factors (FGFs) are encoded by 22 genes. FGFs bind and
activate alternatively spliced forms of four tyrosine kinase FGF receptors (FGFRs 1–4). The …

Brain pathology of spinocerebellar ataxias

K Seidel, S Siswanto, ERP Brunt, W Den Dunnen… - Acta …, 2012 - Springer
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …

PGC-1α deficiency causes multi-system energy metabolic derangements: muscle dysfunction, abnormal weight control and hepatic steatosis

TC Leone, JJ Lehman, BN Finck, PJ Schaeffer… - PLoS …, 2005 - journals.plos.org
The gene encoding the transcriptional coactivator peroxisome proliferator-activated receptor-
γ coactivator-1α (PGC-1α) was targeted in mice. PGC-1α null (PGC-1α−/−) mice were viable …

Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models

N Su, M Jin, L Chen - Bone research, 2014 - nature.com
Fibroblast growth factor (FGF)/fibroblast growth factor receptor (FGFR) signaling plays
essential roles in bone development and diseases. Missense mutations in FGFs and FGFRs …

Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain

ALM Ferri, M Cavallaro, D Braida, A Di Cristofano… - 2004 - journals.biologists.com
In many species, the Sox2 transcription factor is a marker of the nervous system from the
beginning of its development, and we have previously shown that Sox2 is expressed in …

Nuclear factor E2-related factor 2-dependent antioxidant response element activation by tert-butylhydroquinone and sulforaphane occurring preferentially in …

AD Kraft, DA Johnson, JA Johnson - Journal of Neuroscience, 2004 - Soc Neuroscience
Binding of the transcription factor nuclear factor E2-related factor 2 (Nrf2) to the antioxidant
response element (ARE) in neural cells results in the induction of a battery of genes that can …