scholarly journals Insight on molecular pathogenesis and pharmacochaperoning potential in Phosphomannomutase 2 ( PMM2 ) deficiency, provided by novel human PMM2 structures

2021 ◽  
Author(s):  
Alvaro Briso‐Montiano ◽  
Francisco Caño‐Ochoa ◽  
Alicia Vilas ◽  
Adrian Velázquez‐Campoy ◽  
Vicente Rubio ◽  
...  
Keyword(s):  
Molecular Pathogenesis ◽  
Phosphomannomutase 2

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

Genetic Variants of Matrix-Metalloproteinase Genes and Their Inhibitors in the Molecular Pathogenesis of Intracranial Aneurysms

Skull Base ◽  
2005 ◽  
Vol 15 (S 2) ◽  
Author(s):  
Dietmar Krex ◽  
Inke König ◽  
A. Ziegler ◽  
H. Schackert ◽  
G. Schackert
Keyword(s):  
Matrix Metalloproteinase ◽  
Genetic Variants ◽  
Intracranial Aneurysms ◽  
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 Should patients with Phosphomannomutase 2-CDG be screened for adrenal insufficiency?

2021 ◽  
Author(s):  
Anna Cechova ◽  
Tomas Honzik ◽  
Andrew C. Edmondson ◽  
Can Ficicioglu ◽  
Mercedes Serrano ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Phosphomannomutase 2

scholarly journals Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes

2021 ◽  
Vol 22 (16) ◽  
pp. 8368
Author(s):  
Luis M. Valor ◽  
Jorge C. Morales ◽  
Irati Hervás-Corpión ◽  
Rosario Marín
Keyword(s):  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Fragile X ◽  
Endocrine System ◽  
Molecular Pathogenesis ◽  
Adult Women ◽  
Adult Men ◽  
Cgg Repeats ◽  
Reproductive Impairment ◽  
Ataxia Syndrome

Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5’-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic effects that lead to a variety of Fragile X-associated syndromes: the neurodevelopmental Fragile X syndrome (FXS) in children, the late-onset neurodegenerative disorder Fragile X-associated tremor-ataxia syndrome (FXTAS) that mainly affects adult men, the Fragile X-associated primary ovarian insufficiency (FXPOI) in adult women, and a variety of psychiatric and affective disorders that are under the term of Fragile X-associated neuropsychiatric disorders (FXAND). In this review, we will describe the pathological mechanisms of the adult “gain-of-function” syndromes that are mainly caused by the toxic actions of CGG RNA and FMRpolyG peptide. There have been intensive attempts to identify reliable peripheral biomarkers to assess disease progression and onset of specific pathological traits. Mitochondrial dysfunction, altered miRNA expression, endocrine system failure, and impairment of the GABAergic transmission are some of the affectations that are susceptible to be tracked using peripheral blood for monitoring of the motor, cognitive, psychiatric and reproductive impairment of the CGG-expansion carriers. We provided some illustrative examples from our own cohort. Understanding the association between molecular pathogenesis and biomarkers dynamics will improve effective prognosis and clinical management of CGG-expansion carriers.

scholarly journals Establishing Individualized Medicine for Intractable Cancer Based on Clinical Molecular Pathogenesis

2018 ◽  
Vol 138 (4) ◽  
pp. 451-455
Author(s):  
Hirofumi Jono
Keyword(s):  
Individualized Medicine ◽  
Molecular Pathogenesis
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