Ribosomopathies: Mechanisms of Disease

Ribosomopathies: Mechanisms of Disease

Show other versions (1)

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 translational and transcriptional regulation has clarified the mechanisms of the ribosomopathies and the relationship between ribosoma...

Full description

Bibliographic Details
Main Authors:	Hani Nakhoul, Jiangwei Ke, Xiang Zhou, Wenjuan Liao, Shelya X. Zeng, Hua Lu
Format:	Article
Language:	English
Published:	SAGE Publishing 2014-01-01
Series:	Clinical Medicine Insights: Blood Disorders
Online Access:	https://doi.org/10.4137/CMBD.S16952

Similar Items

Ribosomopathies: Mechanisms of Disease
by: Hani Nakhoul, et al.
Published: (2014-08-01)

HMG-boxes, ribosomopathies and neurodegenerative disease
by: Tom Moss, et al.
Published: (2023-08-01)

Cancer Biogenesis in Ribosomopathies
by: Sergey O. Sulima, et al.
Published: (2019-03-01)

Ribosomopathies: New Therapeutic Perspectives
by: Emilien Orgebin, et al.
Published: (2020-09-01)

Potentials of ribosomopathy gene as pharmaceutical targets for cancer treatment
by: Mengxin Wang, et al.
Published: (2024-03-01)

Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces
by: Roberto Valli, et al.
Published: (2023-04-01)

Convergent somatic evolution commences in utero in a germline ribosomopathy
by: Heather E. Machado, et al.
Published: (2023-08-01)

Nucleolar stress in Drosophila neuroblasts, a model for human ribosomopathies
by: Sonu Shrestha Baral, et al.
Published: (2020-04-01)

Rpsamutations in isolated congenital asplenia (ICA): A ribosomopathy unveiled
by: Bosch, B, et al.
Published: (2017)

How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies
by: Giulia Venturi, et al.
Published: (2020-10-01)

A ribosomopathy reveals decoding defective ribosomes driving human dysmorphism.
by: Paolini, N, et al.
Published: (2017)

Global effect of inauhzin on human p53-responsive transcriptome.
by: Jun-Ming Liao, et al.
Published: (2012-01-01)

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
by: Tiffany Chern, et al.
Published: (2022-01-01)

Invariable Ribosome Stoichiometry During Murine Erythroid Differentiation: Implications for Understanding Ribosomopathies
by: Christos I. Papagiannopoulos, et al.
Published: (2022-02-01)

Ribosomopathies: how a common root can cause a tree of pathologies
by: Nadia Danilova, et al.
Published: (2015-09-01)

The Nucleolus: A Multiphase Condensate Balancing Ribosome Synthesis and Translational Capacity in Health, Aging and Ribosomopathies
by: Carl C. Correll, et al.
Published: (2019-08-01)

GATA1 and PU.1 Bind to Ribosomal Protein Genes in Erythroid Cells: Implications for Ribosomopathies.
by: Elsa P Amanatiadou, et al.
Published: (2015-01-01)

Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
by: Alice Costantini, et al.
Published: (2020-10-01)

Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies.
by: Boultwood, J, et al.
Published: (2013)

Determination of maximum tolerated dose and toxicity of Inauhzin in mice
by: Qi Zhang, et al.
Published: (2015-01-01)

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome
by: Ibrahim Taha, et al.
Published: (2022-08-01)

RBM10, a New Regulator of p53
by: Ji Hoon Jung, et al.
Published: (2020-09-01)

p53 induces ARTS to promote mitochondrial apoptosis
by: Qian Hao, et al.
Published: (2021-02-01)

Expanding the Natural History of <i>SNORD118</i>-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
by: Davide Politano, et al.
Published: (2023-09-01)

The role of IMP dehydrogenase 2 in Inauhzin-induced ribosomal stress
by: Qi Zhang, et al.
Published: (2014-10-01)

Inauhzin Sensitizes p53-Dependent Cytotoxicity and Tumor Suppression of Chemotherapeutic Agents
by: Yiwei Zhang, et al.
Published: (2013-05-01)

Structure and activity analysis of Inauhzin analogs as novel antitumor compounds that induce p53 and inhibit cell growth.
by: Qi Zhang, et al.
Published: (2012-01-01)

Inactivation of oncogenic cAMP-specific phosphodiesterase 4D by miR-139-5p in response to p53 activation
by: Bo Cao, et al.
Published: (2016-07-01)

Hepatic ribosomal protein S6 (Rps6) insufficiency results in failed bile duct development and loss of hepatocyte viability; a ribosomopathy-like phenotype that is partially p53-dependent.
by: Sarah A Comerford, et al.
Published: (2023-01-01)

Nerve growth factor receptor negates the tumor suppressor p53 as a feedback regulator
by: Xiang Zhou, et al.
Published: (2016-06-01)

3253 Identification of Immune Cell Profiles and Molecular Pathways in Inflammatory Bowel Disease Driving Non-Response to Biologic Therapy
by: Harrison Michael Penrose, et al.
Published: (2019-03-01)

The shortest species: how the length of Russian poetry changed (1750–1921)
by: Artjom Shelya, et al.
Published: (2017-08-01)

SPIN1 promotes tumorigenesis by blocking the uL18 (universal large ribosomal subunit protein 18)-MDM2-p53 pathway in human cancer
by: Ziling Fang, et al.
Published: (2018-03-01)

Research progress on the clinical application and mechanism of iguratimod in the treatment of autoimmune diseases and rheumatic diseases
by: Zhiyong Long, et al.
Published: (2023-09-01)

Role and mechanism of CD90+ fibroblasts in inflammatory diseases and malignant tumors
by: Feng Zeng, et al.
Published: (2023-02-01)

Seeking Justice for Indonesian Children: The Juvenile Criminal Justice System in Indonesia in the Context of Criminal Justice Reform
by: Resty Shelya Pujiani, et al.
Published: (2022-09-01)

High-Throughput Sequence Analysis of Peripheral T-Cell Lymphomas Indicates Subtype-Specific Viral Gene Expression Patterns and Immune Cell Microenvironments
by: Hani Nakhoul, et al.
Published: (2019-08-01)

Resource Allocation for Millimeter Wave Self-Backhaul Network Using Markov Approximation
by: Wenjuan Pu, et al.
Published: (2019-01-01)

Mechanical Properties and Fracture Behavior of Laser Powder-Bed-Fused GH3536 Superalloy
by: Haohan Ni, et al.
Published: (2022-07-01)

Bacterial TLR4 and NOD2 signaling linked to reduced mitochondrial energy function in active inflammatory bowel disease
by: Emmanuelle Ruiz, et al.
Published: (2020-05-01)