Sort   by:  
 Page size 
TranscriptomicsTranscription profiling of different types of skeletal muscles from wild type and alpha tropomyosin transgenic slow mice to investigate the molecular mechanisms implicated in the mouse model of nemaline myopathy.
The aim of this study was to investigate the molecular mechanisms implicated in this mouse model of nemaline myopathy, and to further compare the molecular disease response in different skeletal muscles. For this purpose, snap frozen skeletla muscle specimens from wild type and transgenic for alpha ...
ORGANISM(S): Mus musculus 
2007-12-01 | E-GEOD-3384 | biostudies-arrayexpress
ProteomicsIdentifying secondary processes implicated in nemaline myopathy pathophysiology
Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. While NM has typically been classified by causative genes, disease severity or prognosis cannot be predicted well. The common pathological ...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-06 | PXD042201 | Pride
Nemaline myopathy Neb cko Acta1 
ProteomicsMitochondrial dysfunction in Nemaline myopathy type 6
Nemaline Myopathy type 6 (NEM6) is a congenital myopathy caused by variants in KBTBD13...
ORGANISM(S): Mus musculus (Mouse) 
2026-06-29 | PXD071917 | Pride
Skeletal muscle soleus mice 
TranscriptomicsIn vivo and in vitro investigations of heterozygous nebulin knock-out mice reveal similarities with mild human form of nemaline myopathy
This SuperSeries is composed of the following subset Series: GSE36741: In vivo and in vitro investigations of heterozygous nebulin knock-out mice reveal similarities with mild human form of nemaline myopathy [miRNA] GSE36743: In vivo and in vitro investigations of heterozygous nebulin knock-out mice...
ORGANISM(S): Mus musculus 
2012-09-01 | E-GEOD-36745 | biostudies-arrayexpress
ProteomicsIntegrated single cell functional-proteomic profiling of human skeletal muscle reveals a shift in cellular specificity in nemaline myopathy
Skeletal muscle is a complex syncytial arrangement of an array of cell types and, in the case of muscle specific cells (myofibers), sub-types. There exists extensive heterogeneity in skeletal muscle functional behaviour and molecular landscape, at the cell composition, myofiber sub-type and intra-my...
ORGANISM(S): Homo sapiens (Human) 
2025-06-09 | PXD061287 | Pride
Protein function-omics Nemaline myopathy Single muscle fiber 
ProteomicsEffect of Mavacamten on skeletal muscle fibre proteome in nemaline myopathy
Nemaline myopathy (NM) is a genetic muscle disorder, notably caused by mutations in the NEB gene (NEB-NM). Here we investigated the efficacy of a four-week Mavacamten (myosin ATPase inhibitor) treatment using a NEB-NM mouse model. After the four weeks, soleus muscles were extracted, muscle fibres we...
ORGANISM(S): Mus musculus (Mouse) 
2025-10-14 | PXD051963 | Pride
Skeletal muscle cell  nemaline myopathy  nebulin  mavacamten 
GenomicsLoss of Hectd1 disrupts muscle sarcomere assembly and causes combined desmin-nemaline myopathy
Loss of Hectd1 disrupts muscle sarcomere assembly and causes combined desmin-nemaline myopathy
PRJNA1138709 | ENA
TranscriptomicsNemaline myopathy mouse model
The aim of this study was to investigate the molecular mechanisms implicated in this mouse model of nemaline myopathy, and to further compare the molecular disease response in different skeletal muscles. For this purpose, snap frozen skeletla muscle specimens from wild type and transgenic for alpha ...
ORGANISM(S): Mus musculus 
2006-07-21 | GSE3384 | GEO
Genomics
RNA seq of Nemaline Myopathy samples
PRJNA882425 | ENA
TranscriptomicsLoss of Hectd1 disrupts muscle sarcomere assembly and causes combined desmin-nemaline myopathy
The sarcomere is the muscle contractile unit, whose assembly and disassembly are intimately linked to changes in myofiber size and function. Mutations in sarcomeric proteins are common causes of myopathies, ranging from severe neonatal to adult-onset forms. Here, we identify HECTD1 as an E3 ubiquiti...
ORGANISM(S): Mus musculus 
2024-07-26 | GSE272775 | GEO
Sort   by:  
 Page size