Silvere M van der Maarel

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. doi request reprint Epigenetic mechanisms in health and disease
    S M van der Maarel
    Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Ann Rheum Dis 67:iii97-100. 2008
  2. pmc Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation
    Silvere M van der Maarel
    Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands
    Curr Opin Neurol 25:614-20. 2012
  3. pmc The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy
    Silvere M van der Maarel
    Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands
    Am J Hum Genet 76:375-86. 2005
  4. ncbi request reprint Facioscapulohumeral muscular dystrophy
    Silvere M van der Maarel
    Leiden University Medical Center LUMC, Department of Human Genetics, Postal zone S 3 P, PO Box 9600, 2300 RC Leiden, The Netherlands
    Biochim Biophys Acta 1772:186-94. 2007
  5. pmc Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence
    Silvere M van der Maarel
    Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, Netherlands
    Trends Mol Med 17:252-8. 2011
  6. ncbi request reprint Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
    Petra G M Van Overveld
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, P O Box 9502, 2300 RA Leiden, The Netherlands
    Nat Genet 35:315-7. 2003
  7. pmc Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy
    Vered Raz
    Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, Leiden, The Netherlands
    BMC Neurol 13:70. 2013
  8. ncbi request reprint Somatic mosaicism in FSHD often goes undetected
    Richard J L F Lemmers
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Ann Neurol 55:845-50. 2004
  9. pmc Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy
    Richard J L F Lemmers
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Hum Genet 75:44-53. 2004
  10. doi request reprint A unifying genetic model for facioscapulohumeral muscular dystrophy
    Richard J L F Lemmers
    Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, Netherlands
    Science 329:1650-3. 2010

Research Grants

  1. Llama-derived phage display antibody arrays for FSHD
    Silvere van der Maarel; Fiscal Year: 2003
  2. FSHD as a Disorder of Impaired RNA Biogenesis
    Silvere van der Maarel; Fiscal Year: 2007

Collaborators

Detail Information

Publications54

  1. doi request reprint Epigenetic mechanisms in health and disease
    S M van der Maarel
    Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Ann Rheum Dis 67:iii97-100. 2008
    ..While our understanding of these epigenetic disease mechanisms steadily increases, the challenge will be to develop new drugs that specifically deal with the epigenetic lesion...
  2. pmc Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation
    Silvere M van der Maarel
    Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands
    Curr Opin Neurol 25:614-20. 2012
    ..The purpose of this review is to provide a comprehensive overview of our current understanding of the disease mechanism and to discuss the observations supporting the possibility of a developmental defect in this disorder...
  3. pmc The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy
    Silvere M van der Maarel
    Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands
    Am J Hum Genet 76:375-86. 2005
  4. ncbi request reprint Facioscapulohumeral muscular dystrophy
    Silvere M van der Maarel
    Leiden University Medical Center LUMC, Department of Human Genetics, Postal zone S 3 P, PO Box 9600, 2300 RC Leiden, The Netherlands
    Biochim Biophys Acta 1772:186-94. 2007
    ..Clearly, better disease models need to be developed to identify and test novel intervention strategies to eventually improve the quality of life for patients with FSHD...
  5. pmc Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence
    Silvere M van der Maarel
    Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, Netherlands
    Trends Mol Med 17:252-8. 2011
    ..FSHD is thereby the first example of a human disease caused by the inefficient repression of a retrogene in a macrosatellite repeat array...
  6. ncbi request reprint Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
    Petra G M Van Overveld
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, P O Box 9502, 2300 RA Leiden, The Netherlands
    Nat Genet 35:315-7. 2003
    ..These results strongly suggest that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1...
  7. pmc Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy
    Vered Raz
    Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, Leiden, The Netherlands
    BMC Neurol 13:70. 2013
    ..OPMD is characterized by fibrosis in skeletal muscles but the causative molecular mechanisms are not fully understood...
  8. ncbi request reprint Somatic mosaicism in FSHD often goes undetected
    Richard J L F Lemmers
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Ann Neurol 55:845-50. 2004
    ..Therefore, clinicians should always consider pulsed-field gel electrophoresis analysis in de novo FSHD families, in particular when the patient's phenotype is much milder than expected based on D4Z4 length proper...
  9. pmc Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy
    Richard J L F Lemmers
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Hum Genet 75:44-53. 2004
    ..Furthermore, the distribution of different cell populations in mosaic patients with FSHD suggests that mosaicism here results from D4Z4 rearrangements occurring during the first few zygotic cell divisions after fertilization...
  10. doi request reprint A unifying genetic model for facioscapulohumeral muscular dystrophy
    Richard J L F Lemmers
    Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, Netherlands
    Science 329:1650-3. 2010
    ..These findings suggest that FSHD arises through a toxic gain of function attributable to the stabilized distal DUX4 transcript...
  11. pmc Novel protein-protein interactions inferred from literature context
    Herman H H B M van Haagen
    Biosemantics Association, Department of Human Genetics, Leiden University Medical Center, Leiden, and Department of Medical Informatics, Erasmus University Medical Center, Rotterdam, The Netherlands
    PLoS ONE 4:e7894. 2009
    ..Our framework can be used for prioritizing potential interaction partners, hitherto undiscovered, for follow-up studies and to aid the generation of accurate protein interaction maps...
  12. pmc Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling
    Antoine de Morrée
    Center for Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    PLoS ONE 5:e11940. 2010
    ..Consequently, SUMO2 is deregulated in patient muscle tissue. Our study thus uncovers unexpected crosstalk between CAPN3 proteolysis and protein sumoylation, with strong implications for muscle remodeling...
  13. pmc Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle
    Yanchao Huang
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mol Genet 17:1855-66. 2008
    ..Thus, our findings suggest interconnectivity between both diseases by revealing a novel physiological role for CAPN3 in regulating the dysferlin protein complex...
  14. ncbi request reprint Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
    Richard J L F Lemmers
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Nat Genet 32:235-6. 2002
    ..A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele...
  15. doi request reprint Self-regulated alternative splicing at the AHNAK locus
    Antoine de Morrée
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    FASEB J 26:93-103. 2012
    ..A small 17-kDa isoform of Periaxin similarly traffics between the cytoplasm and the nucleus to regulate mRNA splicing. Thus, AHNAK constitutes a novel mechanism in post-transcriptional control of gene expression...
  16. pmc Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution
    Richard J L F Lemmers
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Hum Genet 86:364-77. 2010
    ....
  17. doi request reprint Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
    Jessica C de Greef
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 30:1449-59. 2009
    ..In conclusion, we describe two ways to develop FSHD: (1) contraction-dependent or (2) contraction-independent D4Z4 hypomethylation on the 4qA161 subtelomere...
  18. pmc A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging
    Seyed Yahya Anvar
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    Aging (Albany NY) 5:412-26. 2013
    ..We suggest that PABPN1 levels regulate muscle cell aging and OPMD represents an accelerated muscle aging disorder. ..
  19. pmc Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
    Richard J L F Lemmers
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Hum Genet 81:884-94. 2007
    ..We also show that each of these haplotypes has its unique sequence signature, and we propose that specific SNPs in the disease haplotype are essential for the development of FSHD...
  20. pmc Dysferlin regulates cell adhesion in human monocytes
    Antoine de Morrée
    Departments of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
    J Biol Chem 288:14147-57. 2013
    ..Moreover, patient macrophages show altered adhesion and motility. These findings suggest that dysferlin is involved in regulating cellular interactions and provide new insight into dysferlin function in inflammatory cells...
  21. pmc Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
    Richard J L F Lemmers
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nat Genet 44:1370-4. 2012
    ..Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation...
  22. pmc Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
    Yvonne D Krom
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    PLoS Genet 9:e1003415. 2013
    ..These transgenic mice therefore represent a valuable animal model for FSHD and will be a useful resource to study the molecular mechanisms underlying FSHD and to test new therapeutic intervention strategies...
  23. pmc Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD
    Yvonne D Krom
    Leiden University Medical Center, Leiden, The Netherlands
    Am J Pathol 181:1387-401. 2012
    ..These cell lines will facilitate pairwise comparisons to identify FSHD-specific differences and are expected to create new opportunities for high-throughput drug screens...
  24. pmc Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47
    Judit Balog
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Hum Genet 20:185-91. 2012
    ....
  25. ncbi request reprint Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy
    Petra G M Van Overveld
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden, The Netherlands
    Ann Neurol 58:569-76. 2005
    ....
  26. pmc In vivo detection of amyloid-β deposits using heavy chain antibody fragments in a transgenic mouse model for Alzheimer's disease
    Rob J A Nabuurs
    Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands
    PLoS ONE 7:e38284. 2012
    ....
  27. doi request reprint Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome
    Maartje G Huijbers
    Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands
    Hum Immunol 74:849-51. 2013
    ..ERC1 is therefore a new, but rare, antigen in LEMS...
  28. pmc Interspecies translation of disease networks increases robustness and predictive accuracy
    Seyed Yahya Anvar
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    PLoS Comput Biol 7:e1002258. 2011
    ..This study presents a state-of-the-art strategy in constructing interspecies disease networks that provide crucial information on regulatory relationships among genes, leading to better understanding of the disease molecular mechanisms...
  29. pmc Epigenetic mechanisms of facioscapulohumeral muscular dystrophy
    Jessica C de Greef
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Mutat Res 647:94-102. 2008
    ..In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis...
  30. pmc MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4
    Maartje G Huijbers
    Department of Neurology, Department of Human Genetics and Department of Molecular Cell Biology, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands
    Proc Natl Acad Sci U S A 110:20783-8. 2013
    ..These results provide insight into the unique pathogenesis of MuSK MG and provide clues toward development of specific treatment options. ..
  31. pmc Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions
    Mireille Schaap
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Genomics 14:143. 2013
    ..Copy number variation, stability and genetic heterogeneity of the autosomal macrosatellite repeats RS447 (chromosome 4p), MSR5p (5p), FLJ40296 (13q), RNU2 (17q) and D4Z4 (4q and 10q) and X chromosomal DXZ4 and CT47 were investigated...
  32. doi request reprint Pathogenic IgG4 subclass autoantibodies in MuSK myasthenia gravis
    Jaap J Plomp
    Department of Neurology, Medical Genetics Center, Leiden University Medical Center, Leiden, The Netherlands
    Ann N Y Acad Sci 1275:114-22. 2012
    ....
  33. pmc Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein
    Vered Raz
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Pathol 179:1988-2000. 2011
    ..We suggest that this difference can contribute to muscle weakness in OPMD...
  34. pmc Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
    Richard J F L Lemmers
    Leiden University Medical Center, Center for Human and Clinical Genetics, Department of Human Genetics, Leiden, The Netherlands
    Am J Hum Genet 75:1124-30. 2004
    ..Thus, in addition to a contraction of D4Z4, additional cis-acting elements on 4qA may be required for the development of FSHD. Alternatively, 4qB subtelomeres may contain elements that prevent FSHD pathogenesis...
  35. pmc Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
    Jessica C de Greef
    Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
    Am J Hum Genet 88:796-804. 2011
    ....
  36. ncbi request reprint Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display
    Yanchao Huang
    1Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands
    Eur J Hum Genet 13:721-30. 2005
    ..Using these antibody fragments, we found that calpain 3, which shows a secondary reduction in the dysferlinopathies, interacts with dysferlin...
  37. pmc Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation
    Eleonora de Klerk
    Center for Human and Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Nucleic Acids Res 40:9089-101. 2012
    ....
  38. doi request reprint Selection of VHH antibody fragments that recognize different Aβ depositions using complex immune libraries
    Rinse Klooster
    Department of Human and Clinical Genetics, Medical Genetics Center, Leiden University Medical Center, Leiden, The Netherlands
    Methods Mol Biol 911:241-53. 2012
    ..We show that this can result in binders that preferentially recognize the target of interest when present in specific structures depending on the antigen source...
  39. doi request reprint Clinical Dutch-English Lambert-Eaton Myasthenic syndrome (LEMS) tumor association prediction score accurately predicts small-cell lung cancer in the LEMS
    Maarten J Titulaer
    Leiden University Medical Center, Leiden, The Netherlands
    J Clin Oncol 29:902-8. 2011
    ..In view of its profound impact on therapy and survival, we developed and validated a score to identify the presence of SCLC early in the course of LEMS...
  40. pmc Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients
    Seyed Yahya Anvar
    Center for Human and Clinical Genetics, Leiden University Medical Center, P, O, Box 9600, 2300 RC Leiden, The Netherlands
    Skelet Muscle 1:15. 2011
    ..We suggest that the natural decrease in proteasome expression and its activity during muscle aging contributes to the onset of the disease...
  41. doi request reprint SOX antibodies in small-cell lung cancer and Lambert-Eaton myasthenic syndrome: frequency and relation with survival
    Maarten J Titulaer
    Department of Neurology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Oncol 27:4260-7. 2009
    ..Clinical outcome with respect to SOX antibodies was evaluated, as the SOX-related antitumor immune response might help to control the tumor growth...
  42. pmc Reversible aggregation of PABPN1 pre-inclusion structures
    Vered Raz
    Department of Human Genetics, Leiden University Medical Centre, The Netherlands
    Nucleus 2:208-18. 2011
    ..Together our results demonstrate that the aggregation process of WT- and expPABPN1 differs in steps preceding inclusion formation, suggesting that pre-aggregated protein species could represent the cytotoxic structures...
  43. pmc A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells
    J Annelies E Polman
    Division of Medical Pharmacology, Leiden Amsterdam Center for Drug Research, Leiden University Medical Center, Leiden, 2333 CC, The Netherlands
    BMC Neurosci 13:118. 2012
    ..The objective of the present study was to identify genome-wide glucocorticoid receptor binding sites in neuronal PC12 cells using Chromatin ImmunoPrecipitation combined with next generation sequencing (ChIP-Seq)...
  44. pmc Therapeutic exon skipping for dysferlinopathies?
    Annemieke Aartsma-Rus
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Hum Genet 18:889-94. 2010
    ..We also show that DYSF exon skipping seems to be as straightforward as DMD exon skipping, as AONs to induce efficient skipping of four DYSF exons were readily identified...
  45. ncbi request reprint AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
    Yanchao Huang
    Center for Human and Clinical Genetics, Leiden Univesity Medical Center, Leiden, The Netherlands
    FASEB J 21:732-42. 2007
    ..It may also have significant implications for understanding the biology of AHNAK-containing exocytotic vesicles, "enlargosomes," in plasma membrane remodeling and repair...
  46. ncbi request reprint FRG1P-mediated aggregation of proteins involved in pre-mRNA processing
    Silvana van Koningsbruggen
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
    Chromosoma 116:53-64. 2007
    ..Intriguingly, among FRG1P-associated proteins are SMN and PABPN1, both being involved in neuromuscular disorders, possibly through RNA biogenesis-related processes...
  47. doi request reprint Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice
    Rinse Klooster
    Department of Human Genetics, Medical Genetics Centre, Leiden University Medical Centre, Leiden, The Netherlands
    Brain 135:1081-101. 2012
    ....
  48. pmc Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes
    Peter E Thijssen
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Epigenetics 8:512-21. 2013
    ..Our study provides a detailed description of human subtelomeric chromatin dynamics and shows distinct regulation of the TERRA promoters of 7q and 11q upon cellular senescence. ..
  49. doi request reprint Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD
    Antonietta Impagliazzo
    Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands
    FEBS Lett 584:1558-64. 2010
    ..These results may increase our understanding of the PABPN1 aggregation mechanism and the therapeutic potential of 3F5...
  50. pmc Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity
    Antoine de Morrée
    Center for Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    PLoS ONE 5:e13854. 2010
    ..Together our analyses show that dysferlin is not only a membrane repair protein but also important for muscle membrane maintenance and integrity...
  51. pmc Differential recognition of vascular and parenchymal beta amyloid deposition
    Kim S Rutgers
    Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, Netherlands
    Neurobiol Aging 32:1774-83. 2011
    ..Continued use and characterization of these reagents will be necessary to fully understand the performance of these immunoreagents...
  52. ncbi request reprint Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy
    Maria Manuela O Tonini
    Departamento de Biologia, Human Genome Research Center, Universidade de Sao Paulo, Rua do Matao, 277 Cidade Universitária, CEP 05508 090, Sao Paulo, SP, Brazil
    Hum Genet 119:23-8. 2006
    ..This finding supports the hypothesis that a mitotic contraction of D4Z4 is an early embryonic event and indicates that the degree of mosaicism in PBL is representative for that of muscle...
  53. ncbi request reprint Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
    Peter S Masny
    Department of Biological Chemistry, University of California, Irvine 92697, USA
    Hum Mol Genet 13:1857-71. 2004
    ..Interestingly, it is not D4Z4 itself that mediates interaction with the envelope, as sequences proximal to D4Z4 (i.e. D4S139) localize closer to the nuclear periphery, perhaps accounting for the chromosome 4 specificity of the disease...
  54. ncbi request reprint Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
    Sara T Winokur
    Department of Biological Chemistry, 202 Sprague Hall, University of California, Irvine, CA 92697, USA
    Hum Mol Genet 12:2895-907. 2003
    ..Improper nuclear localization of 4qter is discussed as an alternative model for FSHD gene regulation and pathogenesis...

Research Grants3

  1. Llama-derived phage display antibody arrays for FSHD
    Silvere van der Maarel; Fiscal Year: 2003
    ..Evidently, these antibodies can also be used individually for specific immunohistochemical and immunocytochemical studies. ..
  2. FSHD as a Disorder of Impaired RNA Biogenesis
    Silvere van der Maarel; Fiscal Year: 2007
    ..Moreover, on the long term, we expect that uniform myogenic cell models with well-defined disease parameters for FSHD will be of importance for pharmaceutical intervention studies. ..