Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

PubWeight™: 1.71‹?› | Rank: Top 3%

🔗 View Article (PMID 10655062)

Published in Nat Genet on February 01, 2000

Authors

E S Moreira1, T J Wiltshire, G Faulkner, A Nilforoushan, M Vainzof, O T Suzuki, G Valle, R Reeves, M Zatz, M R Passos-Bueno, D E Jenne

Author Affiliations

1: [1] Centro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil.

Articles citing this

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology (2013) 2.09

A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J Cell Biol (2007) 1.60

Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol (2014) 1.58

Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. J Cell Biol (2000) 1.56

Cytoskeletal protein kinases: titin and its relations in mechanosensing. Pflugers Arch (2011) 1.46

The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol (2013) 1.45

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A (2001) 1.45

M line-deficient titin causes cardiac lethality through impaired maturation of the sarcomere. J Cell Biol (2006) 1.29

Genomic profiling of messenger RNAs and microRNAs reveals potential mechanisms of TWEAK-induced skeletal muscle wasting in mice. PLoS One (2010) 1.22

Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. Hum Mol Genet (2009) 1.21

A mutation in telethonin alters Nav1.5 function. J Biol Chem (2008) 1.20

A novel custom resequencing array for dilated cardiomyopathy. Genet Med (2010) 1.18

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet (2005) 1.15

Telethonin deficiency is associated with maladaptation to biomechanical stress in the mammalian heart. Circ Res (2011) 1.07

Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy. J Cell Biol (2004) 1.03

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromuscul Disord (2008) 1.02

Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Mol Cell Biol (2006) 1.00

The sarcomeric Z-disc and Z-discopathies. J Biomed Biotechnol (2011) 0.99

Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. Hum Mol Genet (2005) 0.95

myotilin Mutation found in second pedigree with LGMD1A. Am J Hum Genet (2002) 0.94

Functional muscle analysis of the Tcap knockout mouse. Hum Mol Genet (2010) 0.94

A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart. Hum Mol Genet (2012) 0.93

Fishing out proteins that bind to titin. J Cell Biol (2001) 0.92

Kelch proteins: emerging roles in skeletal muscle development and diseases. Skelet Muscle (2014) 0.90

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol (2010) 0.89

Calpain-3 mutations in Turkey. Eur J Pediatr (2006) 0.88

Orai1 deficiency leads to heart failure and skeletal myopathy in zebrafish. J Cell Sci (2012) 0.86

Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes. J Biol Chem (2013) 0.85

Transcriptomic analysis of dystrophin RNAi knockdown reveals a central role for dystrophin in muscle differentiation and contractile apparatus organization. BMC Genomics (2010) 0.85

Transcriptional analysis of the titin cap gene. Mol Genet Genomics (2011) 0.85

Candidate-gene testing for orphan limb-girdle muscular dystrophies. Acta Myol (2008) 0.83

Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene. Acta Myol (2010) 0.82

From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skelet Muscle (2011) 0.81

Myotilin dynamics in cardiac and skeletal muscle cells. Cytoskeleton (Hoboken) (2011) 0.81

Exploiting the full power of temporal gene expression profiling through a new statistical test: application to the analysis of muscular dystrophy data. BMC Bioinformatics (2006) 0.80

Limb-girdle muscular dystrophies - international collaborations for translational research. Nat Rev Neurol (2016) 0.79

Z-disc transcriptional coupling, sarcomeroptosis and mechanoptosis [corrected]. Cell Biochem Biophys (2013) 0.79

Mechano-signaling in heart failure. Pflugers Arch (2014) 0.78

Expression of myotilin during chicken development. Anat Rec (Hoboken) (2014) 0.78

Myostatin in the pathophysiology of skeletal muscle. Curr Genomics (2007) 0.78

Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review). Mol Med Rep (2014) 0.78

Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics. Biochem Res Int (2012) 0.76

Dynamic strength of titin's Z-disk end. J Biomed Biotechnol (2010) 0.75

Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. BMC Clin Pathol (2014) 0.75

Neuromuscular disorders: genes, genetic counseling and therapeutic trials. Genet Mol Biol (2016) 0.75

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. PLoS One (2014) 0.75

Disrupted autophagy undermines skeletal muscle adaptation and integrity. Mamm Genome (2016) 0.75

1H, 13C, and 15N backbone assignment of the first two Ig domains Z1Z2 of the giant muscle protein Titin. J Biomol NMR (2003) 0.75

Articles by these authors

The transcriptional landscape of the mammalian genome. Science (2005) 37.63

Genome cross-referencing and XREFdb: implications for the identification and analysis of genes mutated in human disease. Nat Genet (1997) 10.14

The genome sequence of the plant pathogen Xylella fastidiosa. The Xylella fastidiosa Consortium of the Organization for Nucleotide Sequencing and Analysis. Nature (2000) 10.03

Intrinsically disordered protein. J Mol Graph Model (2001) 8.54

Non-steroidal anti-inflammatory drugs and bleeding peptic ulcer. Lancet (1986) 7.42

Expression of recombinant plasmids in mammalian cells is enhanced by sodium butyrate. Nucleic Acids Res (1983) 5.61

High-mobility-group chromosomal proteins: architectural components that facilitate chromatin function. Prog Nucleic Acid Res Mol Biol (1996) 4.22

Sodium butyrate inhibits histone deacetylation in cultured cells. Cell (1978) 4.20

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet (1998) 3.76

A septin-based hierarchy of proteins required for localized deposition of chitin in the Saccharomyces cerevisiae cell wall. J Cell Biol (1997) 3.37

Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet (2001) 2.88

Induction of MHC class I genes in neurons. Science (1995) 2.84

Migratory activity and functional changes of green fluorescent effector cells before and during experimental autoimmune encephalomyelitis. Immunity (2001) 2.77

The solution structure of an HMG-I(Y)-DNA complex defines a new architectural minor groove binding motif. Nat Struct Biol (1997) 2.56

Transcriptionally active chromatin. Biochim Biophys Acta (1984) 2.39

Comparative genomics, genome cross-referencing and XREFdb. Trends Genet (1995) 2.35

Physical activity and older adults: a review of health benefits and the effectiveness of interventions. J Sports Sci (2004) 2.34

Life at depth: Photobacterium profundum genome sequence and expression analysis. Science (2005) 2.31

Complete murine cDNA sequence, genomic structure, and tissue expression of the high mobility group protein HMG-I(Y). J Biol Chem (1988) 2.30

Intravascular extraction of problematic or infected permanent pacemaker leads: 1994-1996. U.S. Extraction Database, MED Institute. Pacing Clin Electrophysiol (1999) 2.24

Familial occurrence of Duchenne dystrophy through paternal lines in four families. Am J Med Genet (1991) 2.24

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet (1996) 2.22

Minichromosome assembly of non-integrated plasmid DNA transfected into mammalian cells. Nucleic Acids Res (1985) 2.20

Sequence and analysis of chromosome 3 of the plant Arabidopsis thaliana. Nature (2000) 2.17

Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. J Med Genet (1981) 2.10

Alternative processing of mRNAs encoding mammalian chromosomal high-mobility-group proteins HMG-I and HMG-Y. Mol Cell Biol (1989) 2.07

The influence of DNA and nucleosome structure on integration events directed by HIV integrase. J Biol Chem (1994) 2.03

The melatonin rhythm-generating enzyme: molecular regulation of serotonin N-acetyltransferase in the pineal gland. Recent Prog Horm Res (1997) 1.91

Exercise and weight loss in obese older adults with knee osteoarthritis: a preliminary study. J Am Geriatr Soc (2000) 1.80

Multiple closely-linked NFAT/octamer and HMG I(Y) binding sites are part of the interleukin-4 promoter. Nucleic Acids Res (1993) 1.80

Evidence for a shared structural role for HMG1 and linker histones B4 and H1 in organizing chromatin. EMBO J (1996) 1.78

Posttranscriptional gene regulation and specific binding of the nonhistone protein HMG-I by the 3' untranslated region of bovine interleukin 2 cDNA. Proc Natl Acad Sci U S A (1987) 1.77

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet (2000) 1.76

HMG protein family members stimulate human immunodeficiency virus type 1 and avian sarcoma virus concerted DNA integration in vitro. J Virol (1999) 1.71

Headache in mild-to-moderate hypertension and its reduction by irbesartan therapy. Arch Intern Med (2000) 1.68

Conserved chromosomal positions of dual domains of the ets protooncogene in cats, mice, and humans. Proc Natl Acad Sci U S A (1986) 1.67

The DNA-bending protein HMG-1 enhances progesterone receptor binding to its target DNA sequences. Mol Cell Biol (1994) 1.65

Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. Nucleic Acids Res (1993) 1.61

A poly(dA-dT) upstream activating sequence binds high-mobility group I protein and contributes to lymphotoxin (tumor necrosis factor-beta) gene regulation. Mol Cell Biol (1992) 1.61

Rapid changes in rat pineal beta-adrenergic receptor: alterations in l-(3H)alprenolol binding and adenylate cyclase. Proc Natl Acad Sci U S A (1975) 1.60

ZASP: a new Z-band alternatively spliced PDZ-motif protein. J Cell Biol (1999) 1.59

Gene elav of Drosophila melanogaster: a prototype for neuronal-specific RNA binding protein gene family that is conserved in flies and humans. J Neurobiol (1993) 1.57

Caveolin-3 in muscular dystrophy. Hum Mol Genet (1998) 1.55

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions. Hum Genet (1997) 1.54

A comprehensive, high-resolution genomic transcript map of human skeletal muscle. Genome Res (1998) 1.51

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat (2000) 1.51

Isolation, characterization, and differentiation potential of canine adipose-derived stem cells. Cell Transplant (2009) 1.48

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet (2004) 1.47

Zaspopathy in a large classic late-onset distal myopathy family. Brain (2007) 1.47

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci (1999) 1.46

Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett (1997) 1.45

Acylation of bovine rhodopsin by [3H]palmitic acid. J Biol Chem (1984) 1.43

FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. J Biol Chem (2000) 1.42

What do reviewers really want? J Biol Rhythms (2001) 1.40

Prognostic factors in upper gastrointestinal bleeding. Dig Dis Sci (1994) 1.39

Phosphorylation by cdc2 kinase modulates DNA binding activity of high mobility group I nonhistone chromatin protein. J Biol Chem (1991) 1.39

Impact of age and gender on blood pressure and low-density lipoprotein cholesterol reduction: results of a pooled analysis. Curr Med Res Opin (2012) 1.39

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet (2000) 1.38

Three human elastase-like genes coordinately expressed in the myelomonocyte lineage are organized as a single genetic locus on 19pter. Proc Natl Acad Sci U S A (1992) 1.38

High mobility group protein I(Y) is required for function and for c-Rel binding to CD28 response elements within the GM-CSF and IL-2 promoters. Immunity (1996) 1.37

High-mobility group protein HMG-I localizes to G/Q- and C-bands of human and mouse chromosomes. J Cell Biol (1989) 1.36

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy. J Neurol Sci (1991) 1.35

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord (2004) 1.34

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet Genome Res (2006) 1.34

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet (1996) 1.33

Wegener's autoantigen decoded. Nature (1990) 1.31

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet (1996) 1.29

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet (1995) 1.29

Pim-1 protein expression is regulated by its 5'-untranslated region and translation initiation factor elF-4E. Cell Growth Differ (1997) 1.29

Molecular cloning of a functional bovine interleukin 2 cDNA. Proc Natl Acad Sci U S A (1986) 1.29

Molecular cloning, localization and circadian expression of chicken melanopsin (Opn4): differential regulation of expression in pineal and retinal cell types. J Neurochem (2005) 1.28

Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. Genome Res (1996) 1.27

Purification and postsynthetic modifications of Friend erythroleukemic cell high mobility group protein HMG-I. Anal Biochem (1986) 1.25

Regulation of circadian rhythmicity. Science (1982) 1.25

Immunolocalization of Hsp60 in Legionella pneumophila. J Bacteriol (1998) 1.25

Acylation of disc membrane rhodopsin may be nonenzymatic. J Biol Chem (1987) 1.25

Gene expression profiles of epithelial cells microscopically isolated from a breast-invasive ductal carcinoma and a nodal metastasis. Proc Natl Acad Sci U S A (2004) 1.24

New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness, and Xg blood groups. J Med Genet (1974) 1.24

The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. Mol Cell Biol (2000) 1.23

Butyrate suppression of position-effect variegation in Drosophila melanogaster. Mol Gen Genet (1980) 1.21

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet (1992) 1.21

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet (2008) 1.20

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am J Med Genet (1998) 1.20

Effects of reproductive compensation and genetic drift on X-linked lethals. Am J Hum Genet (1978) 1.20

Sodium butyrate stimulates DNA repair in UV-irradiated normal and xeroderma pigmentosum human fibroblasts. J Biol Chem (1982) 1.20