We are analyzing https://link.springer.com/article/10.1186/s40478-015-0224-0.

Title:
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy | Acta Neuropathologica Communications
Description:
Introduction Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, was found to cause a distal-onset myopathy in one family. Results We detail the mutational, neuropathological, neurophysiological, neurological and radiological features of five new DNAJB6-myopathy families. One has the known Phe93Leu mutation and classic late-onset slowly progressive LGMD1D. Two have different mutations of Phe91 causing a variant childhood-onset severe limb-girdle myopathy. One has a Phe100Val mutation and distal-onset myopathy, unique early bulbar involvement, and a gender-modified wide age-of-onset range. The last has childhood-onset severe distal-onset myopathy and the first non-missense DNAJB6 mutation, c.346 + 5G > A, causing a splicing defect that entirely eliminates DNAJB6’s G/F domain (ΔG/F), the domain that harbours all other mutations. Clinical and imaging examinations reveal that muscles considered uninvolved in DNAJB6-myopathy, e.g. lateral gastrocnemii, are affected in our patients with new mutations. Mutational modelling based on the known structure of the bacterial DNAJ2 protein indicates that all past and present mutated residues cluster within 15 Å in the G/F domain and all disturb the interface of this domain with the protein’s J domain that confers the interaction with HSP70. Conclusions Our patients expand the phenotypic spectrum of DNAJB6-myopathy and allow tentative genotype-phenotype specifications. Combining with previous studies, the clinical severity spectrum is as follows: ΔG/F and Phe91 mutations, most severe; Phe100, Pro96, Phe89 mutations, intermediate; and Phe93, least severe. As it stands presently, proximal G/F domain mutations (Phe89, Phe91, Phe93) cause proximal limb-girdle myopathy, while distal G/F mutations (Pro96, Phe100) cause distal-onset myopathy. While all mutations affect the G/F–J interaction, each likely does so in different unknown extents or ways. One mutation, ΔG/F, causes its associated severe distal-onset myopathy phenotype in a clear way, through generation of a G/F domain-lacking DNAJB6 protein.
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Keywords {🔍}

dnajb, mutations, domain, myopathy, phe, patients, mutation, muscle, patient, family, article, protein, fig, pubmed, muscles, disease, age, sequencing, distal, google, scholar, iii, onset, severe, affected, proteins, sporadic, cases, performed, cas, analysis, lgmdd, distalonset, structure, usa, fibers, amino, variant, present, residues, vacuoles, previously, years, including, pheleu, δgf, acid, molecular, model, exome,

Topics {✒️}

10 iu/μl m-mlv reverse transcriptase limb-girdle muscular dystrophy lucia morandi & marina mora federica sangiuolo & giuseppe novelli tentative genotype-phenotype specifications proximal limb-girdle myopathy 1 iu/μl rnase inhibitor establish tentative genotype–phenotype article download pdf biotin-conjugated secondary antibody open access license marina mora population-based linkage analyses hsp70 anti-aggregation protein anti-guinea pig igg sparing extra-ocular muscles full size image limb girdle myopathy high-throughput sequencing data protein aggregation myopathies diffuse fibro-fatty substitution giuseppe novelli covance research products genome-wide linkage analysis distal-onset dnajb6 myopathy position-specific scoring matrices chaperone-assisted selective autophagy 125 mm tris–hcl ph 8 dominantly-inherited myopathy neuromuscular disease unit mutation-dependent phenotypic differences genetically undefined vacuolar gender-modified wide age protein prevents aggregation search anti-aggregation function [2 privacy choices/manage cookies full access distal-onset phenotype african-american family mentioned mid-leg level called type 1e gov/projects/snp/ inclusion body myositis detailed view inhibits huntingtin aggregation lower molecular weight proximal-onset myopathy mutational modelling based mid-thigh level

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WebPage:
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         headline:Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
         description:Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, was found to cause a distal-onset myopathy in one family. We detail the mutational, neuropathological, neurophysiological, neurological and radiological features of five new DNAJB6-myopathy families. One has the known Phe93Leu mutation and classic late-onset slowly progressive LGMD1D. Two have different mutations of Phe91 causing a variant childhood-onset severe limb-girdle myopathy. One has a Phe100Val mutation and distal-onset myopathy, unique early bulbar involvement, and a gender-modified wide age-of-onset range. The last has childhood-onset severe distal-onset myopathy and the first non-missense DNAJB6 mutation, c.346 + 5G > A, causing a splicing defect that entirely eliminates DNAJB6’s G/F domain (ΔG/F), the domain that harbours all other mutations. Clinical and imaging examinations reveal that muscles considered uninvolved in DNAJB6-myopathy, e.g. lateral gastrocnemii, are affected in our patients with new mutations. Mutational modelling based on the known structure of the bacterial DNAJ2 protein indicates that all past and present mutated residues cluster within 15 Å in the G/F domain and all disturb the interface of this domain with the protein’s J domain that confers the interaction with HSP70. Our patients expand the phenotypic spectrum of DNAJB6-myopathy and allow tentative genotype-phenotype specifications. Combining with previous studies, the clinical severity spectrum is as follows: ΔG/F and Phe91 mutations, most severe; Phe100, Pro96, Phe89 mutations, intermediate; and Phe93, least severe. As it stands presently, proximal G/F domain mutations (Phe89, Phe91, Phe93) cause proximal limb-girdle myopathy, while distal G/F mutations (Pro96, Phe100) cause distal-onset myopathy. While all mutations affect the G/F–J interaction, each likely does so in different unknown extents or ways. One mutation, ΔG/F, causes its associated severe distal-onset myopathy phenotype in a clear way, through generation of a G/F domain-lacking DNAJB6 protein.
         datePublished:2015-07-25T00:00:00Z
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            Vacuolar
            Aggregation
            Myopathy
            TDP-43
            Frontotemporal
            Neurosciences
            Pathology
            Neurology
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      headline:Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
      description:Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, was found to cause a distal-onset myopathy in one family. We detail the mutational, neuropathological, neurophysiological, neurological and radiological features of five new DNAJB6-myopathy families. One has the known Phe93Leu mutation and classic late-onset slowly progressive LGMD1D. Two have different mutations of Phe91 causing a variant childhood-onset severe limb-girdle myopathy. One has a Phe100Val mutation and distal-onset myopathy, unique early bulbar involvement, and a gender-modified wide age-of-onset range. The last has childhood-onset severe distal-onset myopathy and the first non-missense DNAJB6 mutation, c.346 + 5G > A, causing a splicing defect that entirely eliminates DNAJB6’s G/F domain (ΔG/F), the domain that harbours all other mutations. Clinical and imaging examinations reveal that muscles considered uninvolved in DNAJB6-myopathy, e.g. lateral gastrocnemii, are affected in our patients with new mutations. Mutational modelling based on the known structure of the bacterial DNAJ2 protein indicates that all past and present mutated residues cluster within 15 Å in the G/F domain and all disturb the interface of this domain with the protein’s J domain that confers the interaction with HSP70. Our patients expand the phenotypic spectrum of DNAJB6-myopathy and allow tentative genotype-phenotype specifications. Combining with previous studies, the clinical severity spectrum is as follows: ΔG/F and Phe91 mutations, most severe; Phe100, Pro96, Phe89 mutations, intermediate; and Phe93, least severe. As it stands presently, proximal G/F domain mutations (Phe89, Phe91, Phe93) cause proximal limb-girdle myopathy, while distal G/F mutations (Pro96, Phe100) cause distal-onset myopathy. While all mutations affect the G/F–J interaction, each likely does so in different unknown extents or ways. One mutation, ΔG/F, causes its associated severe distal-onset myopathy phenotype in a clear way, through generation of a G/F domain-lacking DNAJB6 protein.
      datePublished:2015-07-25T00:00:00Z
      dateModified:2015-07-25T00:00:00Z
      pageStart:1
      pageEnd:14
      license:https://creativecommons.org/publicdomain/zero/1.0/
      sameAs:https://doi.org/10.1186/s40478-015-0224-0
      keywords:
         DNAJB6
         Vacuolar
         Aggregation
         Myopathy
         TDP-43
         Frontotemporal
         Neurosciences
         Pathology
         Neurology
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            name:Federica Sangiuolo
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                     name:Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Rome, Italy
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                  address:
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                     type:PostalAddress
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                  name:University of Toronto
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                     name:Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Toronto, Canada
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            type:Person
            name:Lucia Morandi
            affiliation:
                  name:Fondazione IRCCS Istituto Neurologico “C. Besta”
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                     name:Neuromuscular Disease and Immunology Unit, Fondazione IRCCS Istituto Neurologico “C. Besta”, Milan, Italy
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            name:Luca Federici
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