Pierre‐Emmanuel Gleizes
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1
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417
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About
Pierre-Emmanuel Gleizes is a leading molecular biologist whose research centers on ribosome biogenesis, RNA processing, and the molecular underpinnings of human genetic disorders. His major contributions have fundamentally reshaped our understanding of how ribosomal assembly defects lead to disease, particularly Diamond-Blackfan anemia (DBA). In his landmark 2008 study, cited over 417 times, Gleizes and his team identified that mutations in ribosomal proteins L5 and L11 are directly linked to cleft palate and abnormal thumbs in DBA patients, establishing a critical genotype-phenotype correlation. This work not only clarified the genetic heterogeneity of DBA but also highlighted how ribosomopathies—diseases of ribosome production—can manifest in diverse developmental anomalies. Beyond this, Gleizes has systematically characterized the nucleolar stages of pre-ribosomal RNA processing and the role of small nucleolar RNAs, providing a mechanistic framework for how ribosomal defects trigger cellular stress and tissue-specific pathologies. His research has been instrumental in bridging basic ribosome biology with clinical genetics, making him a pivotal figure in the field. For students and researchers, Gleizes’ work exemplifies how fundamental cell biology can illuminate rare diseases and open new avenues for therapeutic intervention.
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