Md. Suhail Alam†

Variants in glycine decarboxylase activate mechanisms of mitochondrial energy metabolism in the brain.

The paper investigates how GLDC variants affect mitochondrial energy metabolism in the brain, showing reduced GLDC levels and altered metabolic pathways in mutant mice.

Chronic HDACi emends microglial differentiation and neurological disease in a mouse model of intellectual disability

The paper shows that a triple combination of HDAC inhibitor and excipients improves microglial function in a mouse model of Kabuki Syndrome by restoring chromatin marks and cognitive responses.

Gene therapy prevents disease and death from non-ketotic hyperglycinemia

This study demonstrates that gene therapy using rAAV9-GLDC prevents disease and death in a mouse model of non-ketotic hyperglycinemia.

Long-range action of an HDAC inhibitor treats chronic pain in a spared nerve injury rat model

This study shows a triple combination of HDAC inhibitor, caging agent, and PEG extends efficacy of a single dose of HDACi for chronic pain treatment in rats.

Genomic analyses of glycine decarboxylase neurogenic mutations yield a large scale prediction model for prenatal disease.

The paper develops a prediction model for prenatal disease outcomes in GLDC mutations using combined human and murine genomic analyses and in vivo evidence.

Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

The paper develops a mutation score and clinical severity scale to predict neurological disease severity in glycine decarboxylase mutations.

Tolerance of chronic HDACi-administration used for treatment of neurological and visceral disease including lung pathogenesis.

This study shows that chronic administration of a triple HDACi formulation is well-tolerated in mice, preserving brain and lung function while improving drug delivery to the brain and lungs.