Erin E. Chown

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1 ‐Related Disease

Rebecca L. Koch, H. Orhan Akman, Erin E. Chown, Deberah Goldman et autres

ABSTRACT Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1 , resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”). GSD IV manifests across a spectrum of clinical …

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Unifying the communities of early-onset glycogen storage disease type IV and adult polyglucosan body disease through a genetic prevalence study of GBE1 -related disease

Rebecca L. Koch, Hasan O. Akman, Erin E. Chown, Deberah Goldman et autres

ABSTRACT Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1 , resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”). GSD IV manifests across a spectrum of clinical …

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Circadian gene variation in relation to breeding season and latitude in allochronic populations of two pelagic seabird species complexes

Katie Birchard, Hannah G. Driver, Dami Ademidun, Yuliana Bedolla‐Guzmán et autres

Annual cues in the environment result in physiological changes that allow organisms to time reproduction during periods of optimal resource availability. Understanding how circadian rhythm genes sense these environmental cues and stimulate the appropriate physiological changes in response is important for determining …

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Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy

Sharmistha Mitra, Baozhi Chen, P. Wang, Erin E. Chown et autres

Glycogen is the largest cytosolic macromolecule and is kept in solution through a regular system of short branches allowing hydration. This structure was thought to solely require balanced glycogen synthase and branching enzyme activities. Deposition of overlong branched glycogen in the fatal …

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Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Silvia Nitschke, Mitchell A. Sullivan, Sharmistha Mitra, Charlotte R Marchioni et autres

Longer glucan chains tend to precipitate. Glycogen, by far the largest mammalian glucan and the largest molecule in the cytosol with up to 55 000 glucoses, does not, due to a highly regularly branched spherical structure that allows it to be perfused …

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An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice

Silvia Nitschke, Erin E. Chown, Xiaochu Zhao, Shoghig Gabrielian et autres

Malstructured glycogen accumulates over time in Lafora disease (LD) and precipitates into Lafora bodies (LBs), leading to neurodegeneration and intractable fatal epilepsy. Constitutive reduction of glycogen synthase-1 (GYS1) activity prevents murine LD, but the effect of GYS1 reduction later in disease course …

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GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder et autres

OBJECTIVE: Adult polyglucosan body disease (APBD) is an adult-onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched glycogen aggregates called polyglucosan bodies in …

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Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang et autres

Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood. Here, in two mouse models of LD ( Epm2a −/− and Epm2b −/− ) …

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Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration

Mitchell A. Sullivan, Felix Nitschké, Erin E. Chown, Laura F. DiGiovanni et autres

SUMMARY Glycogen synthesis is vital, malstructure resulting in precipitation and accumulation into neurotoxic polyglucosan bodies (PBs). One well-understood mechanism of PB generation is glycogen branching enzyme deficiency (GBED). Less understood is Lafora disease (LD), resulting from absence of the glycogen phosphatase laforin …

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Identification of Therapeutic Targets in a Glycogen Storage Disease Type IV Mouse Model

Erin E. Chown

Adult polyglucosan body disease (APBD) is a neurological, adult-onset variant of glycogen storage disease type IV caused by mutations in the glycogen branching enzyme gene. APBD is characterized by the accumulation of poorly-branched glycogen molecules which aggregate to form pathogenic inclusions, called …

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

Felix Nitschké, Mitchell A. Sullivan, Peixiang Wang, Xiaochu Zhao et autres

Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated and poorly hydrosoluble. It precipitates and accumulates into neurotoxic Lafora bodies (LBs). The …

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Survival in the '90s.

Erin E. Chown