Joel M Gottesfeld
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Explore the profile of Joel M Gottesfeld including associated specialties, affiliations and a list of published articles.
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60
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2314
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Recent Articles
1.
Rodden L, Rummey C, Dong Y, Lagedrost S, Regner S, Brocht A, et al.
Front Mol Biosci
. 2022 Sep;
9:933788.
PMID: 36133907
Friedreich ataxia (FRDA) is a recessive neurodegenerative disease characterized by progressive ataxia, dyscoordination, and loss of vision. The variable length of the pathogenic GAA triplet repeat expansion in the gene...
2.
Rodden L, Chutake Y, Gilliam K, Lam C, Soragni E, Hauser L, et al.
Hum Mol Genet
. 2021 Jan;
29(23):3818-3829.
PMID: 33432325
Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, which results in transcriptional deficiency via epigenetic silencing. Most patients...
3.
Gottesfeld J
Neurotherapeutics
. 2019 Jul;
16(4):1032-1049.
PMID: 31317428
Friedreich ataxia (FRDA), the most common inherited ataxia, is caused by transcriptional silencing of the nuclear FXN gene, encoding the essential mitochondrial protein frataxin. Currently, there is no approved therapy...
4.
Gottesfeld J
J Biol Chem
. 2019 Feb;
294(5):1652-1660.
PMID: 30710013
During Herbert Tabor's tenure as Editor-in-Chief from 1971 to 2010, JBC has published many seminal papers in the fields of chromatin structure, epigenetics, and regulation of transcription in eukaryotes. As...
5.
Lai J, Nachun D, Petrosyan L, Throesch B, Campau E, Gao F, et al.
J Biol Chem
. 2018 Dec;
294(6):1846-1859.
PMID: 30552117
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by transcriptional silencing of the frataxin () gene, resulting in loss of the essential mitochondrial protein frataxin. Based on the knowledge that...
6.
Gottesfeld J, Carey M
J Biol Chem
. 2018 Aug;
293(36):13775-13777.
PMID: 30068547
Regulation of transcription in eukaryotic cells is a dynamic interplay between chromatin structure and recruitment of a plethora of transcription factors to enhancers, upstream activator sequences, and proximal promoter elements....
7.
Soragni E, Petrosyan L, Rinkoski T, Wieben E, Baratz K, Fautsch M, et al.
Invest Ophthalmol Vis Sci
. 2018 Apr;
59(5):1888-1896.
PMID: 29677349
Purpose: The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated...
8.
Lai J, Leman L, Ku S, Vickers C, Olsen C, Montero A, et al.
Bioorg Med Chem Lett
. 2017 Jun;
27(15):3289-3293.
PMID: 28648462
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is caused by inactivating mutations in the Survival of motor neuron 1 (SMN1) gene, resulting in decreased SMN protein...
9.
Soragni E, Gottesfeld J
Expert Opin Orphan Drugs
. 2017 Apr;
4(9):961-970.
PMID: 28392990
Introduction: Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by expansion of a GAA·TTC triplet in the first intron of the gene, encoding the essential mitochondrial protein frataxin....
10.
Xu C, Soragni E, Jacques V, Rusche J, Gottesfeld J
Pharmaceuticals (Basel)
. 2016 Oct;
4(12):1578-1590.
PMID: 27721337
Friedreich's ataxia (FRDA) is caused by transcriptional repression of the nuclear FXN gene encoding the essential mitochondrial protein frataxin. Based on the hypothesis that the acetylation state of the histone...