Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

• A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing

  2025 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  1

  citations
• A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing

  2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  0

  citations
• Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy

  2024 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  11

  citations
• SUMOylation differentially regulates SMCHD1 complex formation and function in a genomic context-specific manner

  2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics

  1

  citations
• Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities

  2024 Cold Spring Harbor Perspectives in Biology preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  9

  citations
• snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis

  2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  15

  citations
• SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

  2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access

  23

  citations
• SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

  2023 Communications Biology article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access

  9

  citations
• Facioscapulohumeral muscular dystrophy: the road to targeted therapies

  2023 Nature Reviews Neurology review Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  68

  citations
• A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

  2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  5

  citations
• High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

  2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  17

  citations
• Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

  2021 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 2 patents

  23

  citations
• SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access

  6

  citations
• Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

  2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 7 patents

  44

  citations
• Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients

  2020 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  15

  citations
• The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy

  2020 Current Opinion in Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 7 patents

  10

  citations
• Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

  2020 Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents

  157

  citations
• Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

  2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  75

  citations

18 results