The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)

Strong, Michael J.

doi:10.1016/j.jns.2009.09.029

Cited by 163 publications

(120 citation statements)

References 171 publications

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“…The etiology contributing to this includes dysphagia, impaired motor function (involving bulbar and extremity muscles), and the possibility that a hypermetabolic state exists [101][102][103][104]. The association of weight loss, impaired nutrition, and shortened survival is commonly observed and actively targeted for proactive treatment [105][106][107][108][109][110].…”

Section: Advances In Treatment Affecting Disease Coursementioning

confidence: 99%

Challenges in the Understanding and Treatment of Amyotrophic Lateral Sclerosis/Motor Neuron Disease

Rosenfeld¹,

Strong

2015

Neurotherapeutics

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With the acceleration in our understanding of ALS and the related motor neuron disease has come even greater challenges in reconciling all of the proposed pathogenic mechanisms and how this will translate into impactful treatments. Fundamental issues such as diagnostic definition(s) of the disease spectrum, relevant biomarkers, the impact of multiple novel genetic mutations and the significant effect of symptomatic treatments on disease progression are all areas of active investigation. In this review, we will focus on these key issues and highlight the challenges that confront both clinicians and basic science researchers.

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Section: Advances In Treatment Affecting Disease Coursementioning

confidence: 99%

Challenges in the Understanding and Treatment of Amyotrophic Lateral Sclerosis/Motor Neuron Disease

Rosenfeld¹,

Strong

2015

Neurotherapeutics

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“…In the last decade several genes implicated in the RNA processing pathways have been associated with ALS, including the fused in sarcoma/traslocated in liposarcoma gene (FUS/TLS) (Strong, 2010). FUS is a ubiquitously expressed 526 amino acid protein, encoded by 15 exons, that belongs to the FET/TET family (FUS, EWS and TAF15 proto-oncoproteins) of multifunctional DNA/RNA binding proteins.…”

Section: Introductionmentioning

confidence: 99%

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

Sproviero¹,

Bella²,

Mazzei³

et al. 2012

Neurobiology of Aging

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Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited form of amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmic accumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS). We identified 4 patients carrying 3 different missense mutations and several polymorphisms. Two different substitutions occurring in the same amino acidic position have been observed in 2 patients: R521G and R521C respectively; P525L mutation has been found in 2 additional cases. Most of the patients with FUS mutations showed early symptom onset and had short disease survival. We also detected 4 different polymorphic variants (3=-untranslated region [UTR] variant, c.*41GϾA; c.523ϩ3ins [GAGGTG];; and rs13331793) in 9 patients from within our cohort. This study underlines the importance of population-based mutation screening of newly identified genes.

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“…4c) (Tan et al 2012). Another Drosophila hnRNP that seems to be involved in a neuronal physiological process is TBPH, the Drosophila homolog of the human TAR DNA-binding protein (TDP-43 or TARDBP) (Buratti and Baralle 2009;Strong 2010;Buratti and Baralle 2010;Ritson et al 2010). Despite its unequivocal hnRNP structure, TDP-43 was originally described as a DNAbinding protein with a putative role in HIV transcription (Ou et al 1995).…”

Section: Roles In Neuromuscular Developmentmentioning

confidence: 99%

Emerging Roles for hnRNPs in post-transcriptional regulation: what can we learn from flies?

2014

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Heterogeneous nuclear ribonucleoproteins (hnRNPs) are a highly conserved family of RNA-binding proteins able to associate with nascent RNAs in order to support their localization, maturation and translation. Research over this last decade has remarked the importance of gene regulatory processes at post-transcriptional level, highlighting the emerging roles of hnRNPs in several essential biological events. Indeed, hnRNPs are key factors in regulating gene expression, thus, having a number of roles in many biological pathways. Moreover, failure of the activities catalysed by hnRNPs affects various biological processes and may underlie several human diseases including cancer, diabetes and neurodegenerative syndromes. In this review, we summarize some of hnRNPs' roles in the model organism Drosophila melanogaster, particularly focusing on their participation in all aspects of post-transcriptional regulation as well as their conserved role and involvement in the aetiology of human pathologies.

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The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)

Cited by 163 publications

References 171 publications

Challenges in the Understanding and Treatment of Amyotrophic Lateral Sclerosis/Motor Neuron Disease

Challenges in the Understanding and Treatment of Amyotrophic Lateral Sclerosis/Motor Neuron Disease

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

Emerging Roles for hnRNPs in post-transcriptional regulation: what can we learn from flies?

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