Hallmarks of ribosomopathies
KR Kampen, SO Sulima, S Vereecke… - Nucleic acids …, 2020 - academic.oup.com
Ribosomopathies are diseases caused by defects in ribosomal constituents or in factors with
a role in ribosome assembly. Intriguingly, congenital ribosomopathies display a paradoxical …
a role in ribosome assembly. Intriguingly, congenital ribosomopathies display a paradoxical …
The multifaceted proteins Reptin and Pontin as major players in cancer
A Grigoletto, P Lestienne, J Rosenbaum - Biochimica et Biophysica Acta …, 2011 - Elsevier
Reptin and Pontin belong to the family of AAA+ ATPases (ATPases Associated with various
cellular Activities). Several studies have reported their overexpression in cancer, including …
cellular Activities). Several studies have reported their overexpression in cancer, including …
Ribosomopathies: mechanisms of disease
Ribosomopathies are diseases caused by alterations in the structure or function of
ribosomal components. Progress in our understanding of the role of the ribosome in …
ribosomal components. Progress in our understanding of the role of the ribosome in …
Translational control in the stress adaptive response of cancer cells: a novel role for the heat shock protein TRAP1
DS Matassa, MR Amoroso, I Agliarulo… - Cell death & …, 2013 - nature.com
TNF receptor-associated protein 1 (TRAP1), the main mitochondrial member of the heat
shock protein (HSP) 90 family, is induced in most tumor types and is involved in the …
shock protein (HSP) 90 family, is induced in most tumor types and is involved in the …
[HTML][HTML] Ribosomal proteins as unrevealed caretakers for cellular stress and genomic instability
Ribosomal proteins (RPs) have gained much attention for their extraribosomal functions
particularly with respect to p53 regulation. To date, about fourteen RPs have shown to bind …
particularly with respect to p53 regulation. To date, about fourteen RPs have shown to bind …
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
V Choesmel, S Fribourg… - Human molecular …, 2008 - academic.oup.com
Diamond-Blackfan anemia (DBA) is a rare congenital disease affecting erythroid precursor
differentiation. DBA is emerging as a paradigm for a new class of pathologies potentially …
differentiation. DBA is emerging as a paradigm for a new class of pathologies potentially …
RPS19 mutations in patients with Diamond‐Blackfan anemia
MF Campagnoli, U Ramenghi, M Armiraglio… - Human …, 2008 - Wiley Online Library
Diamond‐Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid
aplasia. Thirty percent (30%) of patients display malformations, especially of the hands, face …
aplasia. Thirty percent (30%) of patients display malformations, especially of the hands, face …
A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia
EE Devlin, L DaCosta, N Mohandas… - Blood, The Journal …, 2010 - ashpublications.org
Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with
mutations in at least 8 different ribosomal protein genes. Mutations in the gene encoding …
mutations in at least 8 different ribosomal protein genes. Mutations in the gene encoding …
Diamond blackfan anemia
S Ball - Hematology 2010, the American Society of Hematology …, 2011 - ashpublications.org
Mutations affecting genes encoding ribosomal proteins cause Diamond Blackfan anemia
(DBA), a rare congenital syndrome associated with physical anomalies, short stature, red …
(DBA), a rare congenital syndrome associated with physical anomalies, short stature, red …
[HTML][HTML] Intracellular partners of fibroblast growth factors 1 and 2-implications for functions
KD Sluzalska, J Slawski, M Sochacka… - Cytokine & Growth …, 2021 - Elsevier
Fibroblast growth factors 1 and 2 (FGF1 and FGF2) are mainly considered as ligands of
surface receptors through which they regulate a broad spectrum of biological processes …
surface receptors through which they regulate a broad spectrum of biological processes …