Results 101 to 110 of about 7,267 (177)

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology [PDF]

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Al-Mahdawi, S, Blake, J, Cooper, JM, Hughes, S, King, R, Lawrence, L, Lowrie, MB, Pinto, RM, Pook, MA, Varshney, D, Webster, Z   +10 more
core  

Refa (Rehabilitasi Friedreich\u27s Ataxia) sebagai Upaya Peningkatan Kualitas Hidup Penderita di Kecamatan Ampel Boyolali [PDF]

, 2013
Genetic disorders are the most common coordination in the world is Fridreich \u27s ataxia (FA). In Indonesia FA obtained Boyolali Ampel area. FA is progressive and has not found specific drugs for FA.
Dewanti, A. A. (Ajeng), Labetubun, N. S. (Nia), Sitta, A. N. (Alfi), Zaenabu, L. (Lina)   +3 more
core  

Pharmacokinetics and metabolism of idebenone in healthy male subjects [PDF]

, 2018
Purpose: Idebenone is a synthetic analogue of ubiquinone that may be beneficial in the treatment of Friedreich's ataxia. Since in previous pharmacokinetic trials only lower doses were studied, it was the aim of this study to evaluate the pharmacokinetics
Bodmer, Michael, Dreier, Manfred, Drewe, Jürgen, Kutz, Klaus, Vankan, Pierre   +4 more
core  

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C

Antioxidants
Ataxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells.
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti   +9 more
doaj   +1 more source

Friedreich's Ataxia – A Clinical Diagnosis [PDF]

Journal of Krishna Institute of Medical Sciences University, 2015
Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene.
Md. Fekarul Islam , Devdeep Mukherjee, Ritabrata Kundu , Joydeep Das   +3 more
doaj  

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]

, 2019
Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie, Goodman, Spencer, Khan, Meisha, Naphade, Swati, Sharma, Jay   +4 more
core   +1 more source

Desarrollo de un sistema de cuantificación de frataxina humana para el diagnóstico complementario y seguimiento de individuos con Ataxia de Friedreich [PDF]

, 2018
Introducción: la Ataxia de Friedreich es una enfermedad genética de herencia autosómica recesiva, caracterizada por la dificultad en el movimiento. La causa es la mutación en el gen que codifica para una proteína mitocondrial denominada frataxina (Fxn ...
Balbi, Noelia, Faraj, Santiago Enrique, Ferrari, Alejandro Andrés, Pikielny, Ralph, Santos, Javier, Varela, Carolina   +5 more
core  

Friedreich’s Ataxia-A Case Report

Journal of Rawalpindi Medical College, 2018
Friedrich’s ataxia (FA) is an autosomal recessive disorder. It is the most common cause of inherited ataxia. It affects approximately 1-2 persons per 100,000 population.[i] It occurs due to a mutation that results in the homozygous expansion of Guanosine
Tahreem Muntaha, Saman Saleem, Sana Qurban, Mawra Noor   +3 more
doaj  

Neuroinflammation in Friedreich's Ataxia. [PDF]

Int J Mol Sci, 2022
Apolloni S, Milani M, D'Ambrosi N.
europepmc   +1 more source

Author Correction: HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source