Article

Prion-like Conformational Editing of SMN2 Proteins Rescues Spinal Muscular Atrophy

2021-06-11

Abstract excerpt

Spinal muscular atrophy (SMA) causes the loss of motor neurons and progressive muscle weakness. In 95% of patients with SMA, both alleles of the survival motor neuron 1 ( SMN1 ) gene are deleted or the gene contains missense mutations. A nearly identical copy of SMN1 , SMN2 , is normally expressed but is unable to compensate for the loss of SMN1 due to the deletion of exon 7. Here, we demonstrated that conformati...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7b5c5152-9f71-58b3-b972-0861affd1ca3
DOI: 10.21203/rs.3.rs-606188/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Prion-like Conformational Editing of SMN2 Proteins Rescues Spinal Muscular AtrophyDOI 10.21203/rs.3.rs-606188/v1Read

Prion-Like Domain Dysfunction in SMN1 Initiates Aberrant hnRNP Assembly, Multiple Protein Aggregation and Causing Spinal Muscular AtrophySemantic proximity Read

Precisely Correcting SMN Deficiency Pathways in Spinal Muscular Atrophy Using an Off-Amyloid StabilizerSemantic proximity Read

Pathological mutation in SMN impairs modulation of GAR1 phase separation linking condensate dysfunction to Spinal Muscular AtrophySemantic proximity Read

Fine-Tuning α-Synuclein Phase Separation through Sequence-Optimized Peptide ModulatorsSemantic proximity Read

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.Semantic proximity Read

Condensate formation of the human RNA-binding protein SMAUG1 is controlled by its intrinsically disordered regions and interactions with 14-3-3 proteinsSemantic proximity Read

Prion Protein Biology Through the Lens of Liquid-Liquid Phase Separation.Semantic proximity Read

Breaking β-sheets in FUS prion-like domain preserves phase separation and function but prevents aggregation and toxicitySemantic proximity Read

Discovery, Synthesis, and Biological Evaluation of Novel SMN Protein ModulatorsSemantic proximity Read

Identification of Novel Interacting Protein Partners of SMN Using Tandem Affinity PurificationSemantic proximity Read

Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model.Semantic proximity Read

A machine learning framework for predicting and modulating condition-dependent protein phase separationSemantic proximity Read