Melis D. Kose

Ismet Kaptan Street
Ismet Kaptan, 35100, Turkey

Last Updated: 09/26/2026

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Found 41 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

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

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Journal: Brain communications

Published: July 25, 2025

A novel XIAP variant in a patient with hydrops fetalis: HSCT and beyond?

A novel XIAP variant in a patient with hydrops fetalis: HSCT and beyond?

Journal: BMC pediatrics

Published: February 17, 2025

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

Journal: BMC medical genomics

Published: June 26, 2024

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 05, 2023

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Journal: Molecular genetics and metabolism reports

Published: March 16, 2023

N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.

N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.

Journal: Human molecular genetics

Published: January 13, 2023

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

Journal: Life (Basel, Switzerland)

Published: September 22, 2022

A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.

A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.

Journal: The Turkish journal of pediatrics

Published: September 09, 2022

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 01, 2022

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 28, 2022

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Last Updated: 09/26/2026