Proteomic Insights Into Spinal Muscular Atrophy using Patient-Derived Motor Neurons and Hepatocytes
Year: 2026
Type: dataset
Abstract: Spinal Muscular Atrophy (SMA) is classically defined by motor neuron loss but increasing evidence points to broader systemic involvement including the liver. We investigated shared and tissue-specific molecular differences in liver and motor neurons to understand systemic effects of SMA in SMA patients and carriers. Using patient-derived stem cells from SMA patients and control, we generated induced liver (iHeps) and motor neuron (iMNs) cells. We further created isogenic carrier and wild-type lines from the same SMA patient using genome editing. Commonly dysregulated proteins in SMA lines in iHeps and iMNs were upregulated in cell structure and extracellular matrix organization; and downregulated in mitochondrial function and metabolism-related processes. Among them, 36 proteins showed SMN-dependent effects and were involved in protein hydroxylation, tissue organization, wound healing and cell adhesion. Proteins dysregulated in isogenic carriers were largely tissue-specific and involved in immune function, metabolism and intracellular transport, with five proteins showing cross-tissue dysregulation. Our findings reinforce SMA’s multi-system nature, even in asymptomatic carriers Here, we upload the unprocessed data from ProteomeDiscoverer search results from the paper. Data 1 - All 15 iMNs samples (3 replicates of 1-38G, 1-51N, GM23720, HOM and HET) Data 2 - 15 iHeps SMA and WT samples (9 replicates of 1-38G, 3 replicates of 1-51N and GM23720) Data 3 - 27 iHeps isogenic samples (split into 3 TMT sets of 3 replicates of 1-38G, HOM and HET each)
Source: Mendeley Data
DOI: 10.17632/5sck2rtkyw
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7162425157