Non-B DNA structures as a booster of genome instability

Renée C. Duardo, Federico Guerra, Simona Pepe, Giovanni Capranico, Non-B DNA structures as a booster of genome instability, Biochimie, 2023, ISSN 0300-9084, doi:10.1016/j.biochi.2023.07.002.

Transcription-dependent R-loops can also alter the expression levels of genes involved in various disorders. For example, it has been reported that R-loops cause gene silencing at expanded trinucleotide repeats at FXN and FMR1 genes consequently proving an R-loop role in Friedreich's ataxia and X fragile syndrome. Anyway, transcription-mediated R-loop harmful effects are mostly related to the replication process.

Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia

Huang H, Shakkottai VG. Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia. Life (Basel, Switzerland). 2023 Jun;13(6):1350. DOI: 10.3390/life13061350. PMID: 37374132; PMCID: PMC10302946. 

We further propose that treatments aimed at restoring Purkinje neuron intrinsic membrane excitability have the potential to be a shared therapy in cerebellar ataxia akin to levodopa for Parkinson's disease.

Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review

Hustinx M, Shorrocks AM, Servais L. Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review. Pharmaceutics. 2023 May;15(6):1626. DOI: 10.3390/pharmaceutics15061626. PMID: 37376074; PMCID: PMC10305260.

 Multiple trials have been conducted in subjects with FRDA in recent years, and our search yielded seven publications since 2018, assessing six different drugs. Most trials used the Friedreich Ataxia Rating Scale (FARS) or modified FARS (mFARS), 9-hole peg test (9HPT), and 25 or 8 min walk tests to assess the efficacies of the drugs. However, none of these tests are specific to neuropathy progression.

Direct Cysteine Desulfurase Activity Determination by NMR and the Study of the Functional Role of Key Structural Elements of Human NFS1

Sewell KE, Gola GF, Pignataro MF, et al. Direct Cysteine Desulfurase Activity Determination by NMR and the Study of the Functional Role of Key Structural Elements of Human NFS1. ACS Chemical Biology. 2023 Jul. DOI: 10.1021/acschembio.3c00147. PMID: 37410592.

We identified CTS as a key element that established interactions with ISCU2 and FXN concurrently; we found specific interactions that are established when FXN is present, reinforcing the idea that FXN not only forms part of the iron-sulfur cluster assembly site but also modulates the internal motions of ISCU2.