Mitochondrial medicine in the omics era

J Rahman, S Rahman - The Lancet, 2018 - thelancet.com
Mitochondria are dynamic bioenergetic organelles whose maintenance requires around 1500
proteins from two genomes. Mutations in either the mitochondrial or nuclear genome can …

[HTML][HTML] Mitochondrial DNA-associated Leigh syndrome and NARP

DR Thorburn, J Rahman, S Rahman - 2017 - europepmc.org
Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle
weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive …

Mitochondrial disease and endocrine dysfunction

J Chow, J Rahman, JC Achermann… - Nature Reviews …, 2017 - nature.com
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis
occurs in these organelles and they provide energy in the form of ATP for hormone production …

[HTML][HTML] Leigh map: A novel computational diagnostic resource for mitochondrial disease

J Rahman, A Noronha, I Thiele, S Rahman - Annals of neurology, 2017 - ncbi.nlm.nih.gov
Mitochondrial disorders are among the most severe metabolic disorders wherein patients
suffer from multisystemic phenotypes, often resulting in early death. 1 Clinical, biochemical, …

Moving towards clinical trials for mitochondrial diseases

…, N Keshavan, J Rahman, S Rahman - Journal of Inherited …, 2021 - Wiley Online Library
Primary mitochondrial diseases represent some of the most common and severe inherited
metabolic disorders, affecting ~1 in 4,300 live births. The clinical and molecular diversity …

[HTML][HTML] Systems biology approaches toward understanding primary mitochondrial diseases

EM Maldonado, F Taha, J Rahman, S Rahman - Frontiers in genetics, 2019 - frontiersin.org
Primary mitochondrial diseases form one of the most common and severe groups of genetic
disease, with a birth prevalence of at least 1 in 5000. These disorders are multi-genic and …

[HTML][HTML] The utility of phenomics in diagnosis of inherited metabolic disorders

J Rahman, S Rahman - Clinical Medicine, 2019 - ncbi.nlm.nih.gov
Inherited metabolic disorders (IMDs) are debilitating inherited diseases, with phenotypic,
biochemical and genetic heterogeneity, frequently leading to prolonged diagnostic odysseys. …

Novel Diagnostic and Therapeutic Approaches for Mitochondrial Disorders

J Rahman - 2020 - discovery.ucl.ac.uk
… I, Joyeeta Rahman, declare that the work presented in this thesis is original and my own. All
material in this document has been obtained in accordance with academic rules and ethical …

Mitochondrial diseases and status epilepticus

S Rahman - Epilepsia, 2018 - Wiley Online Library
… The author thanks Joyeeta Rahman for assistance with the literature search for this article. …
Rahman S. Pathophysiology of mitochondrial disease causing epilepsy and status epilepticus…

[HTML][HTML] Protective effects of medicinal plant-based foods against diabetes: a review on pharmacology, phytochemistry, and molecular mechanisms

…, JT Khan, MR Rafi, MS Rahman, AB Rahman… - Nutrients, 2023 - mdpi.com
Diabetes mellitus (DM) comprises a range of metabolic disorders characterized by high
blood glucose levels caused by defects in insulin release, insulin action, or both. DM is a …