Explanipedia

Modelling mitochondrial diseases in neurons <i>In Vitro</i> : A systematic review Open

Mariana Zarate-Mendez, Nihal Basha, Oliver Podmanicky, Natalia Malig, Denisa Hathazi , et al. · 2025

Mitochondrial diseases, characterized by disruptions in cellular energy production, manifest diverse clinical phenotypes despite a shared molecular aetiology. Of note is the frequent involvement of the brain in these pathologies. Given the…

Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation Open

Denisa Hathazi, C J Lyons, Daniel Lagos, Oliver Podmanicky, Mariana Zarate-Mendez , et al. · 2025

SUMMARY Mitochondrial diseases frequently affect the brain leading to severe and disabling neurological symptoms. The heteroplasmic m.3243A>G mutation in MT-TL1 , encoding mt-tRNA Leu , is responsible for ∼80% of mitochondrial encephalomyo…

Mitochondrial leakage and mtDNA damage trigger early immune response in Inclusion Body Myositis Open

Felix Kleefeld, Emily S. Cross, Daniel Lagos, Benedikt Schoser, Andreas Hentschel , et al. · 2024

Polymyositis with mitochondrial pathology (PM-Mito) was first identified in 1997 as a subtype of idiopathic inflammatory myopathy. Recent findings demonstrated significant molecular similarities between PM-Mito and Inclusion Body Myositis …

Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2 Open

Felix Kleefeld, Rita Horvàth, Iago Pinal‐Fernandez, Andrew L. Mammen, María Casal-Domínguez , et al. · 2024

Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy, myotonia, and myalgia. The disease-causing CCTG tetranucleotide expansion within the CNBP…

Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons Open

Oliver Podmanicky, Fei Gao, Benjamin Munro, Matthew J. Jennings, Veronika Boczonadi , et al. · 2023

Mitochondrial aminoacyl-tRNA synthetase (mt-ARS) mutations cause severe, progressive, and often lethal diseases with highly heterogeneous and tissue-specific clinical manifestations. This study investigates the molecular mechanisms trigger…

Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1 Open

Chi Nguyen, Cecilia Jimenez‐Moreno, Matthias Merker, Charles Joseph Bowers, Nikoletta Nikolenko , et al. · 2023

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice Open

Matthew J. Jennings, Alexia Kagiava, Leen Vendredy, Emily L. Spaulding, Marina Stavrou , et al. · 2022

Molecular markers scalable for clinical use are critical for the development of effective treatments and the design of clinical trials. Here, we identify proteins in sera of patients and mouse models with Charcot-Marie-Tooth disease (CMT) …

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases Open

Semra Hız Kurul, Yavuz Oktay, Ana Töpf, Nóra Szabó, Serdal Güngör , et al. · 2021

Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A de…

Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3 Open

Matthew J. Jennings, Denisa Hathazi, Chi Nguyen, Benjamin Munro, Ute Münchberg , et al. · 2021

Recessive mutations in DNAJC3 , an endoplasmic reticulum (ER)-resident BiP co-chaperone, have been identified in patients with multisystemic neurodegeneration and diabetes mellitus. To further unravel these pathomechanisms, we employed a n…

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH Open

Denisa Hathazi, Dan Cox, Adele D’Amico, Giorgio Tasca, Richard Charlton , et al. · 2021

Marinesco-Sjögren syndrome is a rare human disorder caused by biallelic mutations in SIL1 characterized by cataracts in infancy, myopathy and ataxia, symptoms which are also associated with a novel disorder caused by mutations in INPP5K. W…

Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients Open

Valentina Grande, Denisa Hathazi, Emily O’Connor, Theo Marteau, Ulrike Schara‐Schmidt , et al. · 2021

Myotonic dystrophy type 1 (DM1) is the most common monogenetic muscular disorder of adulthood. This multisystemic disease is caused by CTG repeat expansion in the 3 ′ -untranslated region of the DM1 protein kinase gene called DMPK. DMPK en…

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease Open

Serdal Güngör, Yavuz Oktay, Semra Hız, Álvaro Aranguren‐Ibáñez, İpek Polat Kalafatcilar , et al. · 2020

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency Open

Denisa Hathazi, Helen Griffin, Matthew J. Jennings, Michele Giunta, Christopher A. Powell , et al. · 2020

Full programme Open

Max Damian, Annamaria Deluca, Kanneboyina Nagaraju, Dominic J. Wells, Jennifer E. Morgan , et al. · 2020

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency Open

Denisa Hathazi, Helen Griffin, Matthew J. Jennings, Michele Giunta, Christopher A. Powell , et al. · 2020

Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.1…

Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations Open

Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L. Alston, Nicolai Kohlschmidt , et al. · 2019

Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic acidosis, rhabd…

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome Open

Christian Gatz, Denisa Hathazi, Ute Münchberg, Stephan Buchkremer, Thomas Labisch , et al. · 2019

Background and objective: Recessive mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), a rare neuropediatric disorder. MSS-patients typically present with congenital cataracts, intellectual disability, cerebellar ataxia and…

Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis Open

Andreas Roos, Corinna Preuße, Denisa Hathazi, Hans‐Hilmar Goebel, Werner Stenzel · 2019

Unbiased proteomic profiling was performed toward the identification of biological parameters relevant in sIBM, thus giving hints about the pathophysiological processes and the existence of new reliable markers. For that purpose, skeletal …

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients Open

Heike Kölbel, Denisa Hathazi, Matthew J. Jennings, Rita Horvàth, Andreas Roos , et al. · 2019

Laminin-211 deficiency leads to the most common form of congenital muscular dystrophy in childhood, MDC1A. The clinical picture is characterized by severe muscle weakness, brain abnormalities and delayed motor milestones defining MDC1A as …

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human Open

Vietxuan Phan, Dan Cox, Silvia Cipriani, Sally Spendiff, Stephan Buchkremer , et al. · 2018

Aufklärung der Hintergründe neuromuskulärer Erkrankungen via kombinierter proteomischer und funktioneller Analysen Open

Denisa Hathazi · 2018

Die enorme molekulare Komplexität des Skelettmuskels und des Nervensystems bedingt einige Hindernisse, dies es bei der Durchführung von systematischen Forschungsarbeiten zur Erlangung von Einblicken in physiologische Funktionen und Vulnera…

Biochemical and pathological changes result from mutated Caveolin-3 in muscle Open

José Andrés González Coraspe, Joachim Weis, Mary E. Anderson, Ute Münchberg, Kristina Lorenz , et al. · 2018

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice Open

Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, Rüdiger Rudolf, Joachim Weis , et al. · 2018

Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other genes downstream of…

JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis Open

Leandro Ladislau, Xavier Suárez‐Calvet, S. Toquet, Océane Landon‐Cardinal, Damien Amelin , et al. · 2018

Dermatomyositis is an acquired auto-immune disease characterized by skin lesions and muscle-specific pathological features such as perifascicular muscle fibre atrophy and vasculopathy. Dermatomyositis patients display an upregulation of ty…

The Reaction of Oxy Hemoglobin with Nitrite: Mechanism, Antioxidant-Modulated Effect, and Implications for Blood Substitute Evaluation Open

Denisa Hathazi, Florina Scurtu, Cristina Bischin, Augustin C. Moț, Amr A. A. Attia , et al. · 2018

The autocatalytic reaction between nitrite and the oxy form of globins involves free radicals. For myoglobin (Mb), an initial binding of nitrite to the iron-coordinated oxygen molecule was proposed; the resulting ferrous-peroxynitrate spec…

Additional file 3: of Biochemical and pathological changes result from mutated Caveolin-3 in muscle Open

J. González Coraspe, Joachim Weis, Mary E. Anderson, Ute Münchberg, Kristina Lorenz , et al. · 2018

Table S1. Overview of all proteomic findings. (XLSX 915 kb)

Cover ImageReport and Abstracts of the 14th Meeting of IIM, the Interuniversity Institute of Myology, - Assisi (Italy), October 12-15, 2017 Open

Davide Gabellini, Antonio Musarò, M Linari, N Elvassore, J Ruas , et al. · 2017

In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome Open

Laxmikanth Kollipara, Stephan Buchkremer, José Andrés González Coraspe, Denisa Hathazi, Jan Senderek , et al. · 2017

SIL1 is a ubiquitous protein of the Endoplasmic Reticulum (ER) acting as a co-chaperone for the ER-resident chaperone, BiP. Recessive mutations of the corresponding gene lead to vulnerability of skeletal muscle and central nervous system i…

Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Open

Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan, Tamieka Whyte , et al. · 2017

Comparative In Vivo Effects of Hemoglobin-Based Oxygen Carriers (HBOC) with Varying Prooxidant and Physiological Reactivity Open

Vlad Alexandru Toma, Anca D. Farcaș, I Roman, Bogdan Sevastre, Denisa Hathazi , et al. · 2016

A series of hemoglobin-based oxygen carrier candidates (HBOC), previously noted for their differences in prooxidative and physiological reactivity, were compared in terms of the negative effects displayed upon injection in Wistar rats. At …

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