X-Ray Crystallography in Structure-Function Characterization of Therapeutic Enzymes

Papageorgiou, Anastassios C.

doi:10.1007/978-981-13-7709-9_4

Cited by 1 publication

(1 citation statement)

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“…Functional characterization in such heterologous recombinant proteins 23 will offer mechanistic insights into the efficacy of gene supplementation therapy. Furthermore, crystal structures derived from x‐ray crystallography 24 and molecular dynamics simulations 25 of each polypeptide chain in the protein complex resultant from normal and variant peptides might improve our understanding at atomic levels. Overall, additional functional and biophysical approaches may help to understand functional integrity of such protein constitutes or complex formed from functioning “wild‐type” and mutant proteins.…”

Section: Mendelian Inheritance Traitsmentioning

confidence: 99%

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

Lee,

Latzer,

Bertoldi

et al. 2024

J of Inher Metab Disea

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Neurodevelopment is a highly organized and complex process involving lasting and often irreversible changes in the central nervous system. Inherited disorders of neurotransmission (IDNT) are a group of genetic disorders where neurotransmission is primarily affected, resulting in abnormal brain development from early life, manifest as neurodevelopmental disorders and other chronic conditions. In principle, IDNT (particularly those of monogenic causes) are amenable to gene replacement therapy via precise genetic correction. However, practical challenges for gene replacement therapy remain major hurdles for its translation from bench to bedside. We discuss key considerations for the development of gene replacement therapies for IDNT. As an example, we describe our ongoing work on gene replacement therapy for succinic semialdehyde dehydrogenase deficiency, a GABA catabolic disorder.

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Section: Mendelian Inheritance Traitsmentioning

confidence: 99%