Anita M. Quintana

This study investigates age-related mitochondrial structural deficits in the kidney, finding that the MICOS complex is impaired, leading to increased oxidative stress and mitochondrial dysfunction.

This study uses a zebrafish model of cblX syndrome to show that mTor inhibition at moderate doses reduces seizure severity, but higher doses cause a refractory response in hcfc1a mutants.

This study shows that inhibiting farnesyltransferase reduces the ex vivo expansion of human and mouse hematopoietic stem cells.

This study investigates age-related changes in mitochondrial 3D structure in human skeletal muscle and shows that exercise can restore mitochondrial integrity through mitofusin 2.

This study investigates age-related changes in mitochondrial structure and function in the liver, identifying MICOS complex dysregulation as a contributor to metabolic and structural impairments.

The paper characterizes a zebrafish gabra1 loss of function allele, showing decreased mRNA expression and seizure-like phenotypes, supporting previous findings on GABRA1's role in nervous system development.

The paper characterizes craniofacial defects in a zebrafish cblC model and shows that abnormal chondrocyte intercalation can be restored by wildtype or a cobalamin binding deficient MMACHC protein.

The paper investigates the effects of different HCFC1 mutations in zebrafish on mTor activity and radial glial cell phenotypes, revealing differential outcomes linked to mutation type.

The paper shows that activating WNT signaling rescues craniofacial defects in zebrafish with cholesterol metabolism defects caused by hmgcs1 mutations.

The paper identifies a GABRA1 mutation in a patient with seizures, creates a zebrafish model to study its effects, and shows hypomotility and subunit expression defects.

This study identifies mutations in the zebrafish hmgcs1 gene that impair cholesterol and isoprenoid synthesis, leading to reduced red blood cell development and GATA1 expression.