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000257569 041__ $$aEnglish
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000257569 1001_ $$0P:(DE-HGF)0$$aMueller, Sarah$$b0
000257569 245__ $$aThe Fragile X Protein Family in Amyotrophic Lateral Sclerosis.
000257569 260__ $$aTotowa, NJ$$bHumana Press$$c2023
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000257569 520__ $$aThe fragile X protein (FXP) family comprises the multifunctional RNA-binding proteins FMR1, FXR1, and FXR2 that play an important role in RNA metabolism and regulation of translation, but also in DNA damage and cellular stress responses, mitochondrial organization, and more. FMR1 is well known for its implication in neurodevelopmental diseases. Recent evidence suggests substantial contribution of this protein family to amyotrophic lateral sclerosis (ALS) pathogenesis. ALS is a highly heterogeneous neurodegenerative disease with multiple genetic and unclear environmental causes and very limited treatment options. The loss of motoneurons in ALS is still poorly understood, especially because pathogenic mechanisms are often restricted to patients with mutations in specific causative genes. Identification of converging disease mechanisms evident in most patients and suitable for therapeutic intervention is therefore of high importance. Recently, deregulation of the FXPs has been linked to pathogenic processes in different types of ALS. Strikingly, in many cases, available data points towards loss of expression and/or function of the FXPs early in the disease, or even at the presymptomatic state. In this review, we briefly introduce the FXPs and summarize available data about these proteins in ALS. This includes their relation to TDP-43, FUS, and ALS-related miRNAs, as well as their possible contribution to pathogenic protein aggregation and defective RNA editing. Furthermore, open questions that need to be addressed before definitively judging suitability of these proteins as novel therapeutic targets are discussed.
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000257569 650_2 $$2MeSH$$aHumans
000257569 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000257569 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: metabolism
000257569 650_2 $$2MeSH$$aNeurodegenerative Diseases: genetics
000257569 650_2 $$2MeSH$$aRNA-Binding Proteins: genetics
000257569 650_2 $$2MeSH$$aMotor Neurons: metabolism
000257569 650_2 $$2MeSH$$aDNA Damage
000257569 650_2 $$2MeSH$$aRNA-Binding Protein FUS: genetics
000257569 650_2 $$2MeSH$$aFragile X Mental Retardation Protein: genetics
000257569 650_7 $$2Other$$aAmyotrophic lateral sclerosis ALS
000257569 650_7 $$2Other$$aAmyotrophic lateral sclerosis ALS
000257569 650_7 $$2Other$$aAmyotrophic lateral sclerosis ALS
000257569 650_7 $$2Other$$aFMR1 FMRP
000257569 650_7 $$2Other$$aFXR1 FXR1P
000257569 650_7 $$2Other$$aFXR2 FXR2P
000257569 650_7 $$2Other$$aNeurodegenerative disease
000257569 650_7 $$2Other$$aProtein aggregation
000257569 650_7 $$2NLM Chemicals$$aRNA-Binding Proteins
000257569 650_7 $$2NLM Chemicals$$aRNA-Binding Protein FUS
000257569 650_7 $$2NLM Chemicals$$aFXR1 protein, human
000257569 650_7 $$2NLM Chemicals$$aFMR1 protein, human
000257569 650_7 $$0139135-51-6$$2NLM Chemicals$$aFragile X Mental Retardation Protein
000257569 7001_ $$aDecker, Lorena$$b1
000257569 7001_ $$aMenge, Sonja$$b2
000257569 7001_ $$0P:(DE-2719)2812633$$aLudolph, Albert C$$b3$$udzne
000257569 7001_ $$0P:(DE-2719)9001054$$aFreischmidt, Axel-Dieter$$b4$$udzne
000257569 773__ $$0PERI:(DE-600)2079384-4$$a10.1007/s12035-023-03330-x$$n7$$p3898-3910$$tMolecular neurobiology$$v60$$x0893-7648$$y2023
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