Anthony N. Cutrupi
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View article: Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms
Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms Open
Mutations in TDP-43 are known to cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). TDP-43 binds to and regulates splicing of several RNA including Zmynd11. Zmynd11 is a transcriptional repressor and a potential E…
View article: Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of autism associated gene<i>Zmynd11</i>prior to onset of motor symptoms
Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of autism associated gene<i>Zmynd11</i>prior to onset of motor symptoms Open
Mutations in TDP-43 are known to cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). TDP-43 binds to and regulates splicing of several RNA including Zmynd11 . Zmynd11 is a transcriptional repressor and a potential …
View article: Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy Open
Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and four disease loc…
View article: Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration Open
Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and 4 disease loci i…
View article: Molecular Genetics of Distal Hereditary Motor Neuropathies: Modelling the DHMN1 Complex Insertion
Molecular Genetics of Distal Hereditary Motor Neuropathies: Modelling the DHMN1 Complex Insertion Open
Distal hereditary motor neuropathies (dHMN) are a group of progressive diseases with length-dependent axonal degeneration primarily affecting the lower motor neurons of the peripheral nervous system. This causes denervation of distal muscl…
View article: Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs Open
ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We h…
View article: Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation Open
Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of diseases affecting the motor and sensory peripheral nerves. IPNs have benefited from gene discovery and genetic diagnosis using next‐generatio…