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CMT1A current gene therapy approaches and promising biomarkers

Neural Regeneration Research 2023年第7期18卷 1434-1440页

作者： Marina Stavrou kleopas akleopa Neuroscience Department The Cyprus Institute of Neurology and GeneticsNicosiaCyprus Center for Neuromuscular Disorders The Cyprus Institute of Neurology and GeneticsNicosiaCyprus

Charcot-Marie-Tooth neuropathies(CMT)constitute a group of common but highly heterogeneous,non-syndromic genetic disorders affecting predominantly the peripheral nervous *** type 1A(CMT1A)is the most frequent type and accounts for almost~50%of all diagnosed CMT ***1A results from the duplication of the peripheral myelin protein 22(PMP22)*** of PMP22 protein overloads the protein folding apparatus in Schwann cells and activates the unfolded protein *** leads to Schwann cell apoptosis,dys-and de-myelination and secondary axonal degeneration,ultimately causing neurological *** the last decades,several different gene therapies have been developed to treat *** all of them remain at the pre-clinical stage using CMT1A animal models overexpressing *** therapeutic goal is to achieve gene silencing,directly or indirectly,thereby reversing the CMT1A genetic mechanism allowing the recovery of myelination and prevention of axonal *** promising treatments are rapidly emerging,treatment-responsive and clinically relevant biomarkers are becoming *** biomarkers and sensitive clinical evaluation tools will facilitate the design and successful completion of future clinical trials for CMT1A.

关键词： axonal degeneration biomarkers Charcot-Marie-Tooth disease gene therapy inherited neuropathy mouse models

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Ocular Manifestations in Rheumatoid Arthritis

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Open Journal of Ophthalmology 2016年第3期6卷 170-175页

作者： Diamantis Almaliotis Marina Zakalka Antony Gerofotis kleopas Chatzicharalampous Maria Efstathiou Michael Daniilidis Vasileios Karampatakis Laboratory of Experimental Ophthalmology Aristotle University of Thessaloniki Thessaloniki Greece 1st Department of Pathology of ΑHΕΠΑ Hospital Aristotle University of Thessaloniki Thessaloniki Greece Department of Haematology Theageneio Anticancer Hospital Thessaloniki Greece

Rheumatoid arthritis (RA) is the most common autoimmune disease. Ocular manifestations of this autoimmune disease vary and are mainly keratoconjunctivitis sicca, episcleritis, scleritis and keratitis. Their appearance, as well as their severity are related to RA chronicity and resistance to therapy. The treatment consists of corticosteroids, NSAIDs and cytotoxic drugs, depending on the type of ocular manifestations and the patient’s response to treatment.

关键词： Rheumatoid Arthritis Ocular Manifestations Autoimmunity Nodules Red Eye Sicca Scleritis Episcleritis Schirmer’s Test Corticosteroids Keratitis

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