The molecular pathogenesis of Friedreich ataxia

2001 ◽  
Vol 1 (1-2) ◽  
pp. 127-133
Author(s):  
Hélène Puccio ◽  
Michel Kœnig
Keyword(s):  
Friedreich Ataxia ◽  
Molecular Pathogenesis

Molecular pathogenesis of hereditary inclusion body myopathies

2009 ◽  
Vol 40 (01) ◽  
Author(s):  
S Krause ◽  
N Garcia-Angarita ◽  
A Aleo ◽  
S Hinderlich ◽  
MC Walter ◽  
...  
Keyword(s):  
Inclusion Body ◽  
Molecular Pathogenesis

Advances in molecular pathogenesis thyroid cancer: therapeutic implications

2014 ◽  
Author(s):  
Pilar Santisteban ◽  
Ana Sastre-Perona ◽  
Leon Wert-Lamas ◽  
Garcilaso Riesco-Eizaguirre
Keyword(s):  
Thyroid Cancer ◽  
Molecular Pathogenesis ◽  
Therapeutic Implications

Fundamental study on clarification of brain molecular pathology of Nasu-Hakola disease

Impact ◽  
2019 ◽  
Vol 2019 (8) ◽  
pp. 24-26
Author(s):  
Jun-ichi Satoh
Keyword(s):  
Multiple Sclerosis ◽  
Human Brain ◽  
Clinical Research ◽  
Neurodegenerative Diseases ◽  
Molecular Pathology ◽  
Large Scale ◽  
Molecular Pathogenesis ◽  
Novel Therapies ◽  
Brain Pathology ◽  
Fundamental Study

Brain pathology expert Dr Jun-ichi Satoh, from the Department of Bioinformatics and Molecular Neuropathology of Meiji Pharmaceutical University in Tokyo, is drawing on his expertise on neurology and neuroimmunology to delve into some of the more complex diseases impacting the human brain. His knowledge and expertise have allowed him to direct his research interests to study neurodegenerative diseases, such as Alzheimer's disease (AD), and neuroinflammatory diseases, such as multiple sclerosis (MS), and the analysis of their molecular pathogenesis by using a bioinformatics approach. His current focus is on Nasu-Hakola disease (NHD), a disease whose rarity has posed significant barriers towards performing large-scale clinical research in order to understand what exactly causes this disease and develop effective novel therapies.

scholarly journals Neurodegenerative disorders associated with genes of mitochondria

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Vaibhav S. Marde ◽  
Prerna L. Tiwari ◽  
Nitu L. Wankhede ◽  
Brijesh G. Taksande ◽  
Aman B. Upaganlawar ◽  
...  
Keyword(s):  
Neurodegenerative Diseases ◽  
Mitochondrial Dysfunction ◽  
Neurodegenerative Disorders ◽  
Friedreich Ataxia ◽  
Mitochondrial Genes ◽  
Disease Development ◽  
Main Text ◽  
Functional Studies ◽  
Dominant Part ◽  
Causative Link

Abstract Background Over the last decade, aggregating evidences suggested that there is a causative link between mutation in gene associated with mitochondrial dysfunction and development of several neurodegenerative disorders. Main text Recent structural and functional studies associated with mitochondrial genes have shown that mitochondrial abnormalities possibly lead to mitochondrial dysfunction. Several studies on animal models of neurodegenerative diseases and mitochondrial genes have provided compelling evidence that mitochondria is involved in the initiation as well as progression of diseases such as Parkinson’s disease (PD), Alzheimer’s disease (AD), Huntington’s disease (HD), and Friedreich ataxia (FA). Conclusion In this mini-review, we have discussed the different etiologic and pathogenesis connected with the mitochondrial dysfunction and relevant neurodegenerative diseases that underlie the dominant part of mitochondrial genes in the disease development and its progress.

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