Maria Dimitriadi

University of Hertfordshire — United Kingdom

Medicine · Health Sciences

15h-index1.7kcitations28works2.52yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(11), RNA modifications and cancer(6), Muscle Physiology and Disorders(4), RNA Research and Splicing(4), Genetics, Aging, and Longevity in Model Organisms(3)

Publications28 total

Mifepristone alone and in combination with scAAV9-SMN1 gene therapy improves disease phenotypes in Smn2B/- spinal muscular atrophy mice
Scientific Reports·2025Open Access
Widespread intron retention and exon skipping characterise alternative splicing changes in a <i>C. elegans</i> model of spinal muscular atrophy
Human Molecular Genetics·2025Open Access
Mifepristone alone and in combination with scAAV9- <i>SMN1</i> gene therapy improves disease phenotypes in <i> Smn <sup>2B/-</sup> </i> spinal muscular atrophy mice
2025Open Access
Autophagy in spinal muscular atrophy: from pathogenic mechanisms to therapeutic approaches
Frontiers in Cellular Neuroscience·2024· 10 citedOpen Access
A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models
Human Molecular Genetics·2023· 6 citedOpen Access
A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models
2023· 2 citedOpen Access
Frontispiece: Mitochondrial Targeting and Imaging with Small Organic Conjugated Fluorophores: A Review
Chemistry - A European Journal·2022· 2 citedOpen Access
Mitochondrial Targeting and Imaging with Small Organic Conjugated Fluorophores: A Review
Chemistry - A European Journal·2022· 38 citedOpen Access
Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy
BMC Biology·2020· 21 citedOpen Access
Additional file 1 of Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy
Figshare·2020Open Access
Single copy/knock-in models of ALS SOD1 in C. elegans suggest loss and gain of function have different contributions to cholinergic and glutamatergic neurodegeneration
PLoS Genetics·2018· 74 citedOpen Access
SMN depletion causes defects in endosomal trafficking that impair synaptic function
Neuromuscular Disorders·2017
PARK2 Depletion Connects Energy and Oxidative Stress to PI3K/Akt Activation via PTEN S-Nitrosylation
Molecular Cell·2017· 129 citedOpen Access
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
The American Journal of Human Genetics·2017· 215 citedOpen Access
Abstract A34: Oncogenic KRAS regulates pancreatic cancer cell signaling via stromal reciprocation
Cancer Research·2016· 1 cited
Decreased function of survival motor neuron protein impairs endocytic pathways
Proceedings of the National Academy of Sciences·2016· 60 citedOpen Access
Oncogenic KRAS Regulates Tumor Cell Signaling via Stromal Reciprocation
Cell·2016· 79 citedOpen Access
Oncogenic KRAS Regulates Tumor Cell Signaling via Stromal Reciprocation
Cell·2016· 370 citedOpen Access
C. elegans lifespan extension by osmotic stress requires FUdR, base excision repair, FOXO, and sirtuins
Mechanisms of Ageing and Development·2016· 81 citedOpen Access
The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein
Molecular Biology of the Cell·2013· 54 citedOpen Access
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Frequent Co-authors

Anne C. Hart(10), George Poulogiannis(8), Geetika Kalloo(4), Joseph M. Hoolachan(4), Eve McCallion(4), Emma R Sutton(4), Paloma Pacheco-Torres(4), Mélissa Bowerman(4), Christopher J. Tape(3), Stephanie Ling(3), Jonathan D. Worboys(3), Hui Sun Leong(3), Ida C. Norrie(3), Crispin Miller(3), Douglas A. Lauffenburger(3), Claus Jørgensen(3), Seyyedmohsen Hosseinibarkooie(3), Brunhilde Wirth(3), Melissa B. Walsh(3), Altar Sorkaç(3)