Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice

Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model

(2019) Mika Terumitsu‐Tsujita et al.   JOURNAL OF NEUROCHEMISTRY

OUP accepted manuscript

(2018)   HUMAN MOLECULAR GENETICS

Deletion of exons encoding carboxypeptidase domain of Nna1 results in Purkinje cell degeneration (pcd ) phenotype

(2018) Li Zhou et al.   JOURNAL OF NEUROCHEMISTRY

Recessive mutations in the neuronal isoforms of DST , encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

(2018) Paola Fortugno et al.   HUMAN MUTATION

An RNA-binding protein, Qki5, regulates embryonic neural stem cells through pre-mRNA processing in cell adhesion signaling

(2017) Yoshika Hayakawa-Yano et al.   GENES & DEVELOPMENT

Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

(2017) Iana Turcan et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Reduced Proliferation of Oligodendrocyte Progenitor Cells in the Postnatal Brain of Dystonia Musculorum Mice

(2017) M. Ibrahim Hossain et al.   NEUROCHEMICAL RESEARCH

Motoneuron degeneration in the trigeminal motor nucleus innervating the masseter muscle in Dystonia musculorum mice

(2017) M. Ibrahim Hossain et al.   NEUROCHEMISTRY INTERNATIONAL

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

(2017) Fiore Manganelli et al.   NEUROLOGY

BPAG1 in muscles: Structure and function in skeletal, cardiac and smooth muscle

(2017) Masao Horie et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

(2016) Frauke Seehusen et al.   GENETICS

Characterization of novel dystonia musculorum mutant mice: Implications for central nervous system abnormality

(2016) Masao Horie et al.   NEUROBIOLOGY OF DISEASE

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

(2016) Frauke Seehusen et al.   GENETICS

Recently Identified Forms of Epidermolysis Bullosa

(2015) John A. McGrath   Annals of Dermatology

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

(2015) Kseniia Künzli et al.   EXPERIMENTAL DERMATOLOGY

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

(2014) T. Takeichi et al.   BRITISH JOURNAL OF DERMATOLOGY

Molecular architecture and function of the hemidesmosome

(2014) Gernot Walko et al.   CELL AND TISSUE RESEARCH

Disruption of actin-binding domain-containing Dystonin protein causesdystonia musculorumin mice

(2014) Masao Horie et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

(2014) A. Ferrier et al.   HUMAN MOLECULAR GENETICS

BPAG1a and b Associate with EB1 and EB3 and Modulate Vesicular Transport, Golgi Apparatus Structure, and Cell Migration in C2.7 Myoblasts

(2014) Kseniia Poliakova et al.   PLoS One

BPAG1-e Restricts Keratinocyte Migration through Control of Adhesion Stability

(2013) Magdalene Michael et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

(2011) Lu Liu et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function

(2011) Scott D. Ryan et al.   MOLECULAR BIOLOGY OF THE CELL

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

(2010) Richard W. Groves et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY