Anita M. Quintana

The MICOS Complex Regulates Mitochondrial Structure and Oxidative Stress During Age-Dependent Structural Deficits in the Kidney

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.

A zebrafish seizure model of cblX syndrome reveals a dose-dependent refractory response to mTor inhibition.

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.

Inhibition of farnesyltransferase activity diminishes hematopoietic stem cell ex vivo expansion ability

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

Age-related MICOS Complex Dysregulation Impairs Mitochondrial 3D Architecture and Metabolic Homeostasis in the Liver

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.

Characterization of the zebrafish gabra1sa43718/sa43718 germline loss of function allele confirms a function for Gabra1 in motility and nervous system development.

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.

Abnormal chondrocyte intercalation in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.

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.

Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes.

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.

Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism.

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

Abnormal expression of GABAA receptor sub-units and hypomotility upon loss of gabra1 in zebrafish.

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.

Mutations in the zebrafish hmgcs1 gene reveal a novel function for isoprenoids during red blood cell development.

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.