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Temporal Dynamics and Heterogeneity of Cell Populations during Skeletal Muscle Regeneration

iScience, 2020-04, Vol.23 (4), p.100993, Article 100993

2020

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Lipid droplet dynamics regulate adult muscle stem cell fate

Cell reports (Cambridge), 2022-01, Vol.38 (3), p.110267-110267, Article 110267

2022

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Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

Methods (San Diego, Calif.), 2017-01, Vol.113, p.139-151

2017

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PRMT5 mediates FoxO1 methylation and subcellular localization to regulate lipophagy in myogenic progenitors

Cell reports (Cambridge), 2023-11, Vol.42 (11), p.113329-113329, Article 113329

2023

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Sox11 is enriched in myogenic progenitors but dispensable for development and regeneration of the skeletal muscle

Skeletal muscle, 2023-09, Vol.13 (1), p.1-21, Article 15

2023

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Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

Human mutation, 2018-03, Vol.39 (3), p.415-432

2018

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Single-Cell Isolation from Regenerating Murine Muscles for RNA-Sequencing Analysis

STAR protocols, 2020-09, Vol.1 (2), p.100051-100051, Article 100051

2020

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ACSS3 in brown fat drives propionate catabolism and its deficiency leads to autophagy and systemic metabolic dysfunction

Clinical and translational medicine, 2022-02, Vol.12 (2), p.e665-n/a

2022

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A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

HGG advances, 2024-07, Vol.5 (3), p.100324, Article 100324

2024

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Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease

Human mutation, 2018-06, Vol.39 (6), p.834-840

2018

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LETMD1 is required for mitochondrial structure and thermogenic function of brown adipocytes

The FASEB journal, 2021-11, Vol.35 (11), p.e21965-n/a

2021

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PTEN Inhibition Ameliorates Muscle Degeneration and Improves Muscle Function in a Mouse Model of Duchenne Muscular Dystrophy

Molecular therapy, 2021-01, Vol.29 (1), p.132-148

2021

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Chemically-defined generation of human hemogenic endothelium and definitive hematopoietic progenitor cells

Biomaterials, 2022-06, Vol.285, p.121569-121569, Article 121569

2022

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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

The Journal of clinical investigation, 2019-12, Vol.129 (12), p.5568-5583

2019

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PRMT5 links lipid metabolism to contractile function of skeletal muscles

EMBO reports, 2023-08, Vol.24 (8), p.e57306-n/a

2023

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Muscle stem cells as immunomodulator during regeneration

Current topics in developmental biology, 2024, Vol.158, p.221-238

2024

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Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

Human mutation, 2017-10, Vol.38 (10), p.1412-1420

2017

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Microarray, IPA and GSEA Analysis in Mice Models

Bio-protocol, 2018-09, Vol.8 (17)

2018

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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Neurology. Genetics, 2019-04, Vol.5 (2), p.e565-e565

2019

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Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay

Clinical genetics, 2017-06, Vol.91 (6), p.913-917

2017

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Nature communications, 2019-02, Vol.10 (1), p.708-708, Article 708

2019

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Cover Image, Volume 38, Issue 10

Human mutation, 2017-10, Vol.38 (10), p.i-i

2017

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Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation: OPRESCU et al

Human mutation, 2017-10, Vol.38 (10), p.1412-1420

2017

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Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

Human mutation, 2017-07, Vol.38 (10), p.1412-1420

2017

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Cover Image, Volume 39, Issue 3

Human mutation, 2018-03, Vol.39 (3), p.i-i

2018

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Temporal Dynamics and Heterogeneity of Cell Populations during Skeletal Muscle Regeneration

Lipid droplet dynamics regulate adult muscle stem cell fate

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

PRMT5 mediates FoxO1 methylation and subcellular localization to regulate lipophagy in myogenic progenitors

Sox11 is enriched in myogenic progenitors but dispensable for development and regeneration of the skeletal muscle

Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

Single-Cell Isolation from Regenerating Murine Muscles for RNA-Sequencing Analysis

ACSS3 in brown fat drives propionate catabolism and its deficiency leads to autophagy and systemic metabolic dysfunction

A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease

LETMD1 is required for mitochondrial structure and thermogenic function of brown adipocytes

PTEN Inhibition Ameliorates Muscle Degeneration and Improves Muscle Function in a Mouse Model of Duchenne Muscular Dystrophy

Chemically-defined generation of human hemogenic endothelium and definitive hematopoietic progenitor cells

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

PRMT5 links lipid metabolism to contractile function of skeletal muscles

Muscle stem cells as immunomodulator during regeneration

Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

Microarray, IPA and GSEA Analysis in Mice Models

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Cover Image, Volume 38, Issue 10

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation: OPRESCU et al

Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

Cover Image, Volume 39, Issue 3

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