These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

358 related articles for article (PubMed ID: 25758173)

  • 21. Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.
    Hick A; Wattenhofer-Donzé M; Chintawar S; Tropel P; Simard JP; Vaucamps N; Gall D; Lambot L; André C; Reutenauer L; Rai M; Teletin M; Messaddeq N; Schiffmann SN; Viville S; Pearson CE; Pandolfo M; Puccio H
    Dis Model Mech; 2013 May; 6(3):608-21. PubMed ID: 23136396
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
    Napierala JS; Li Y; Lu Y; Lin K; Hauser LA; Lynch DR; Napierala M
    Dis Model Mech; 2017 Nov; 10(11):1353-1369. PubMed ID: 29125828
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.
    Li Y; Li J; Wang J; Zhang S; Giles K; Prakash TP; Rigo F; Napierala JS; Napierala M
    Hum Mol Genet; 2022 Oct; 31(20):3539-3557. PubMed ID: 35708503
    [TBL] [Abstract][Full Text] [Related]  

  • 24. SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.
    Bon C; Luffarelli R; Russo R; Fortuni S; Pierattini B; Santulli C; Fimiani C; Persichetti F; Cotella D; Mallamaci A; Santoro C; Carninci P; Espinoza S; Testi R; Zucchelli S; Condò I; Gustincich S
    Nucleic Acids Res; 2019 Nov; 47(20):10728-10743. PubMed ID: 31584077
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Complete FXN deletion in a patient with Friedreich's ataxia.
    van den Ouweland AM; van Minkelen R; Bolman GM; Wouters CH; Becht-Noordermeer C; Deelen WH; Deelen-Manders JM; Ippel EP; Saris J; Halley DJ
    Genet Test Mol Biomarkers; 2012 Sep; 16(9):1015-8. PubMed ID: 22691228
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes.
    Angulo MB; Bertalovitz A; Argenziano MA; Yang J; Patel A; Zesiewicz T; McDonald TV
    Mol Genet Genomic Med; 2023 Jan; 11(1):e2093. PubMed ID: 36369844
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency.
    Crombie DE; Curl CL; Raaijmakers AJ; Sivakumaran P; Kulkarni T; Wong RC; Minami I; Evans-Galea MV; Lim SY; Delbridge L; Corben LA; Dottori M; Nakatsuji N; Trounce IA; Hewitt AW; Delatycki MB; Pera MF; Pébay A
    Aging (Albany NY); 2017 May; 9(5):1440-1452. PubMed ID: 28562313
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Friedreich's ataxia: new insights.
    Krasilnikova MM; Humphries CL; Shinsky EM
    Emerg Top Life Sci; 2023 Dec; 7(3):313-323. PubMed ID: 37698160
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular analysis of Friedreich's ataxia locus in the Indian population.
    Mukerji M; Choudhry S; Saleem Q; Padma MV; Maheshwari MC; Jain S
    Acta Neurol Scand; 2000 Oct; 102(4):227-9. PubMed ID: 11071107
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene.
    Kelekçi S; Uğurlu-Çimen D; Demir AB; Özçimen B; Burak Yıldız A; Batuhan Karakuş M; Börklü Yücel E; Önder TT
    Stem Cell Res; 2021 Jul; 54():102438. PubMed ID: 34214898
    [TBL] [Abstract][Full Text] [Related]  

  • 31. GAA repeat polymorphism in Turkish Friedreich's ataxia patients.
    Yilmaz MB; Koç AF; Kasap H; Güzel AI; Sarica Y; Süleymanova D
    Int J Neurosci; 2006 May; 116(5):565-74. PubMed ID: 16644517
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Friedreich's ataxia--a case of aberrant transcription termination?
    Butler JS; Napierala M
    Transcription; 2015; 6(2):33-6. PubMed ID: 25831023
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Frataxin gene point mutations in Italian Friedreich ataxia patients.
    Gellera C; Castellotti B; Mariotti C; Mineri R; Seveso V; Didonato S; Taroni F
    Neurogenetics; 2007 Nov; 8(4):289-99. PubMed ID: 17703324
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia.
    McCabe DJ; Ryan F; Moore DP; McQuaid S; King MD; Kelly A; Daly K; Barton DE; Murphy RP
    J Neurol; 2000 May; 247(5):346-55. PubMed ID: 10896266
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures.
    Lai JI; Nachun D; Petrosyan L; Throesch B; Campau E; Gao F; Baldwin KK; Coppola G; Gottesfeld JM; Soragni E
    J Biol Chem; 2019 Feb; 294(6):1846-1859. PubMed ID: 30552117
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
    Wang D; Ho ES; Cotticelli MG; Xu P; Napierala JS; Hauser LA; Napierala M; Himes BE; Wilson RB; Lynch DR; Mesaros C
    J Lipid Res; 2022 Sep; 63(9):100255. PubMed ID: 35850241
    [TBL] [Abstract][Full Text] [Related]  

  • 37. North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion.
    Singh I; Faruq M; Mukherjee O; Jain S; Pal PK; Srivastav MV; Behari M; Srivastava AK; Mukerji M
    Ann Hum Genet; 2010 May; 74(3):202-10. PubMed ID: 20374234
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons.
    Mazzara PG; Muggeo S; Luoni M; Massimino L; Zaghi M; Valverde PT; Brusco S; Marzi MJ; Palma C; Colasante G; Iannielli A; Paulis M; Cordiglieri C; Giannelli SG; Podini P; Gellera C; Taroni F; Nicassio F; Rasponi M; Broccoli V
    Nat Commun; 2020 Aug; 11(1):4178. PubMed ID: 32826895
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat.
    Li L; Shen X; Liu Z; Norrbom M; Prakash TP; O'Reilly D; Sharma VK; Damha MJ; Watts JK; Rigo F; Corey DR
    Nucleic Acid Ther; 2018 Feb; 28(1):23-33. PubMed ID: 29341839
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
    Zhu D; Burke C; Leslie A; Nicholson GA
    Mov Disord; 2002 May; 17(3):585-9. PubMed ID: 12112211
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.