Results 101 to 110 of about 6,264 (195)

Loss-of-function genetic diseases and the concept of pharmaceutical targets [PDF]

, 2007
The biomedical world relies heavily on the definition of pharmaceutical targets as an essential step in the drug design process. It is therefore tempting to apply this model to genetic diseases as well.
Laurent Ségalat, MA Lindsay, RR Brinkman, F Sams-Dood, F Sams-Dood, M Ceccarelli, V Dubowitz, TA Rando, G Meister, C Eggert, P Rustin   +10 more
core   +2 more sources

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Disease Models & Mechanisms, 2012
In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN).
Alain Martelli, Marek Napierala, Hélène Puccio   +2 more
doaj   +1 more source

Therapeutic targeting of the NRF2 and KEAP1 partnership in chronic diseases [PDF]

, 2019
The transcription factor NF-E2 p45-related factor 2 (NRF2; encoded by NFE2L2) and its principal negative regulator, the E3 ligase adaptor Kelch-like ECH-associated protein 1 (KEAP1), are critical in the maintenance of redox, metabolic and protein ...
Attucks, Otis C., Cousin, Sharon P., Cuadrado, Antonio, Dinkova-Kostova, Albena, Franklin, Stephen, Hayes, John, Kensler, Thomas W., Levonen, Anna-Liisa, Rojo, Ana I., Rumsey, William L., Wells, Geoffrey   +10 more
core   +2 more sources

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. [PDF]

, 2011
Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 ...
ACQUAVIVA, Fabio, ANTENORA, ANTONELLA, CARLOMAGNO, guido, CITTADINI, ANTONIO, COCOZZA, SERGIO, DE MICHELE, GIUSEPPE, Denaro A., FILLA, ALESSANDRO, GUACCI, ANNA, Marsili A., Perrotta G., PIRO, RAFFAELE, Puorro G., SACCA', FRANCESCO   +13 more
core   +1 more source

Transcription as a Threat to Genome Integrity [PDF]

, 2016
Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution.
Aguilera López, Andrés, Gaillard, Hélène   +1 more
core   +1 more source

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  

Friedreich ataxia [PDF]

BMJ, 2013
Peter, Gibilisco, Adam P, Vogel
openaire   +2 more sources

Expandable DNA repeat and human hereditary disorders [PDF]

, 2016
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia.
Fasihi, A., Godarziyan, M., Hashemzadeh-Chaleshtori, M., Ramazi, S.   +3 more
core  

Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play? [PDF]

, 2017
Background and purpose: Cerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination without a genetic cause.
A Mignarri, A Ramirez-Zamora, A Sghirlanzoni, D Bargiela, D Hilleman, DJ Szmulewicz, F Megiorni, F Scaravilli, M Hadjivassiliou, M Hadjivassiliou, P Zis, P Zis, P Zis   +12 more
core   +1 more source