Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

Heterogeneous skeletal muscle cell and nucleus populations identified by single-cell and single-nucleus resolution transcriptome assays

K Williams, K Yokomori, A Mortazavi - Frontiers in Genetics, 2022 - frontiersin.org
Single-cell RNA-seq (scRNA-seq) has revolutionized modern genomics, but the large size of
myotubes and myofibers has restricted use of scRNA-seq in skeletal muscle. For the study of …

Lost in local translation: TDP-43 and FUS in axonal/neuromuscular junction maintenance and dysregulation in amyotrophic lateral sclerosis

D Piol, T Robberechts, S Da Cruz - Neuron, 2023 - cell.com
Key early features of amyotrophic lateral sclerosis (ALS) are denervation of neuromuscular
junctions and axonal degeneration. Motor neuron homeostasis relies on local translation …

Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis

B Ohkawara, M Kurokawa, A Kanai… - Journal of …, 2024 - Wiley Online Library
Skeletal muscle fiber is a large syncytium with multiple and evenly distributed nuclei. Adult
subsynaptic myonuclei beneath the neuromuscular junction (NMJ) express specific genes …

Spatial proteomic approach to characterize skeletal muscle myofibers

KM Fomchenko, EM Walsh, X Yang… - Journal of proteome …, 2020 - ACS Publications
Skeletal muscle myofibers have differential protein expression resulting in functionally
distinct slow-and fast-twitch types. While certain protein classes are well-characterized, the …