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Congrats to Alan Beggs & colleagues for their new #hmg_journal paper: Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy. #Myoblue tinyurl.com/ycysuctx

Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1 Abstract. Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats in the DMPK 3′-untranslated region, affecting multiple organs, including the sk

New #hmg_journal paper: Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1. #Myoblue tinyurl.com/49m4w24c

Bidirectional role of Costameres in the pathophysiology of mdx skeletal muscles Abstract. Skeletal muscles in Duchenne Muscular Dystrophy (DMD) are most susceptible to injury at a point in maturation when dystrophin is absent and utrop

Interesting new #hmg_journal paper: Bidirectional role of Costameres in the pathophysiology of mdx skeletal muscles. #Myoblue tinyurl.com/bdcm9v8n

Novel neurofilament light (Nefl) E397K mouse models of Charcot–Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy Abstract. Charcot–Marie-Tooth (CMT) is the most common hereditary peripheral neuropathy with an incidence of 1:2500. CMT2 clinical symptoms include distal

Congrats to #LorsonLab and colleagues for their new #hmg_journal paper: Novel neurofilament light (Nefl) E397K mouse models of Charcot–Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy. #Myoblue tinyurl.com/y9x94c8z

A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing Abstract. The DUX4 transcription factor is briefly expressed in the early embryo and is epigenetically repressed in somatic tissues. Loss of epigenetic rep

New #hmg_journal paper: A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing. #FSHD #Myoblue tinyurl.com/yfs5nnbn

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy Abstract. Cofilin-2, encoded by CFL2, is an actin-binding protein essential for regulating actin filament dynamics in skeletal muscle. Biallelic variants i

New #hmg_journal paper: Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy. #Myoblue tinyurl.com/2xusbna7

The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E Abstract. Charcot–Marie-Tooth (CMT) disease affects approximately 1 in 2500 people and represents a heterogeneous group of inherited peripheral neuropathie

Congrats to #LorsonLab and colleagues for their new #hmg_journal paper: The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E. #Myoblue tinyurl.com/yfwkhve7

Transcriptional reprogramming in SMA mouse hearts reveals signatures of early heart failure and dysregulated calcium signaling Abstract. Spinal muscular atrophy (SMA) is an inherited neurodegenerative disease that leads to loss of motor neurons in the anterior horn of the spinal co

New #hmg_journal paper: Transcriptional reprogramming in SMA mouse hearts reveals signatures of early heart failure and dysregulated calcium signaling. #Myoblue tinyurl.com/bddf3wmj

Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5 Abstract. Myofibrillar myopathy type 5 (MFM5) is a dominantly inherited myopathy caused by mutations in the FLNC gene. The underlying pathogenic mechanisms

New #hmg_journal paper: Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5. #Myoblue tinyurl.com/nhbv5c5y

New selective androgen receptor modulator TEI-SARM2 improves muscle function in a Duchenne muscular dystrophy rat model Abstract. Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease caused by a genetic mutation in the Dmd gene. Dystrophin mutant mice (mdx) h

New #hmg_journal paper: New selective androgen receptor modulator TEI-SARM2 improves muscle function in a Duchenne muscular dystrophy rat model. #Myoblue tinyurl.com/br8jrnf8

5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy Abstract. RYR1-related congenital myopathies are rare disorders that severely impair muscle function and the quality of life of patients and their families

New #hmg_journal paper: 5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy. #MyoBlue tinyurl.com/4429mc96

Alterations in cardiac function correlate with a disruption in fatty acid metabolism in a mouse model of SMA Abstract. Spinal Muscular Atrophy is an autosomal dominant disease caused by mutations and deletions within the SMN1 gene, with predominantly childhood ons

New #hmg_journal paper: Alterations in cardiac function correlate with a disruption in fatty acid metabolism in a mouse model of SMA. #MyoBlue tinyurl.com/8p3bmekw

Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse Abstract. Spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein. Even though SMN is ubiquitously expressed, the

New #hmg_journal paper: Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse. #SMA tinyurl.com/2dbyyk8v

Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs Abstract. Myotonic dystrophy type 1 (DM1) is a dominantly inherited multi-system disease caused by expanded CTG repeats in the 3′ untranslated region of th

New #hmg_journal paper: Get access 📷Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs. tinyurl.com/muhnp3se