NIH R01 · 2024
Genetic Dissection of Stress Responses in Shwachman-Diamond Syndrome
(PLEASE KEEP IN WORD, DO NOT PDF) Enter the text here that is the new abstract information for your application. This section must be no longer than 30 lines of text. A metabolically active cell contains as many as 107 ribosomes, which are composed of RNA and protein. These complex biochemical machines synthesize proteins at a rate of 200 amino acids per minute with extremely high efficiency and fidelity. Germline or somatic defects in genes encoding components or regulators for ribosome assembly or function cause ribosomopathies, which occur in pediatric and adult patients. Shwachman-Diamond syndrome (SDS) is a prototypic ribosomopathy. SDS is characterized by exocrine pancreatic…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.