Marni J. Falk

Medical Genetics | Pediatrics

3401 Civic Ctr Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 152 publications

Targeted modulation of IGFBP5/IGF1, THPO, and P38 MAPK signaling are potent therapeutic strategies generalizable for mitochondrial respiratory chain disease and osteosarcoma.

Targeted modulation of IGFBP5/IGF1, THPO, and P38 MAPK signaling are potent therapeutic strategies generalizable for mitochondrial respiratory chain disease and osteosarcoma.

Journal: bioRxiv : the preprint server for biology

Published: August 01, 2026

Trans-Mitochondrial Cybrid Generation from mtDNA Patient Platelets: An Efficient Protocol Optimizing Colony Selection and Functional Validation.

Trans-Mitochondrial Cybrid Generation from mtDNA Patient Platelets: An Efficient Protocol Optimizing Colony Selection and Functional Validation.

Journal: Journal of visualized experiments : JoVE

Published: July 27, 2026

Dichloroacetate improves animal survival, growth, neuromuscular activity, mitochondrial stress and physiology, and elevated lactate in C. elegans pdha-1 and dld-1 RNAi models of pyruvate dehydrogenase complex deficiency (PDCD).

Dichloroacetate improves animal survival, growth, neuromuscular activity, mitochondrial stress and physiology, and elevated lactate in C. elegans pdha-1 and dld-1 RNAi models of pyruvate dehydrogenase complex deficiency (PDCD).

Journal: bioRxiv : the preprint server for biology

Published: July 17, 2026

Targeting the Mitochondrial Phenotype in Cockayne Syndrome Patient Cells: From Bioenergetic Fragility to Pharmacologic Rescue.

Targeting the Mitochondrial Phenotype in Cockayne Syndrome Patient Cells: From Bioenergetic Fragility to Pharmacologic Rescue.

Journal: bioRxiv : the preprint server for biology

Published: June 03, 2026

MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation.

MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation.

Journal: Genes

Published: May 25, 2026

High-concentration MEHP triggers mtDNA depletion in undifferentiated HepaRG and C2C12 cultures and disrupts mitochondrial homeostasis in both HepaRG culture states.

High-concentration MEHP triggers mtDNA depletion in undifferentiated HepaRG and C2C12 cultures and disrupts mitochondrial homeostasis in both HepaRG culture states.

Journal: Toxicological sciences : an official journal of the Society of Toxicology

Published: April 29, 2026

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Journal: Science advances

Published: April 15, 2026

A Miniaturized Enzymatic Lactate Sensor for Continuous Monitoring in Oxygen-Depleted Tissue Microenvironments.

A Miniaturized Enzymatic Lactate Sensor for Continuous Monitoring in Oxygen-Depleted Tissue Microenvironments.

Journal: IEEE transactions on bio-medical engineering

Published: March 31, 2026

In vitro modeling of nutritional and mitochondria-targeted therapies for osteosarcoma.

In vitro modeling of nutritional and mitochondria-targeted therapies for osteosarcoma.

Journal: bioRxiv : the preprint server for biology

Published: February 25, 2026

Cognate amino acid therapies provide preclinical benefit in 19 C. elegans models of ARS2 deficiency.

Cognate amino acid therapies provide preclinical benefit in 19 C. elegans models of ARS2 deficiency.

Journal: bioRxiv : the preprint server for biology

Published: February 12, 2026

Endothelial-mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction.

Endothelial-mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction.

Journal: Therapeutic advances in rare disease

Published: December 10, 2025

Cancer prevalence in primary mitochondrial disease patients and their families.

Cancer prevalence in primary mitochondrial disease patients and their families.

Journal: Therapeutic advances in rare disease

Published: December 03, 2025

Showing 1-12 of 152

Last Updated: 09/26/2026