Dikran R. Guisso

Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity

Emrah Gumusgoz, Sahba Kasiri, Ibrahim Youssef, Mayank Verma et autres

us, Égypte (code pays fourni par la source)

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 …

us, ca (code pays fourni par la source)

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Emrah Gumusgoz, Sahba Kasiri, Dikran R. Guisso, Jun Wu et autres

Adult polyglucosan body disease (APBD) and Lafora disease (LD) are autosomal recessive glycogen storage neurological disorders. APBD is caused by mutations in the glycogen branching enzyme (GBE1) gene and is characterized by progressive upper and lower motor neuron dysfunction and premature death. …

us (code pays fourni par la source)

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease

Saija Ahonen, Silvia Nitschke, Tamar R. Grossman, Holly Kordasiewicz et autres

Lafora disease is a fatal progressive myoclonus epilepsy. At root, it is due to constant acquisition of branches that are too long in a subgroup of glycogen molecules, leading them to precipitate and accumulate into Lafora bodies, which drive a neuroinflammatory response …

ca, us (code pays fourni par la source)

Targeting Gys1 with AAV‐SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Emrah Gumusgoz, Dikran R. Guisso, Sahba Kasiri, Jun Wu et autres

us (code pays fourni par la source)

Rathke cleft cyst with size fluctuation: A systematic literature review and case illustration

Dikran R. Guisso, Ahmad Kareem Almekkawi, Tarek Y. El Ahmadieh, Julia Yi et autres

Rathke cleft cysts (RCCs) are known sellar/suprasellar lesions that can grow and become symptomatic. For most asymptomatic lesions, stability is a typical outcome of surveillance; however, random relapse or cyst size fluctuation may also be observed. The conventional treatment for growing cysts …

us, lb (code pays fourni par la source)

The antioxidant MnTBAP does not effectively downregulate CD4 expression in T cells in vivo

Navid Manouchehri, Dikran R. Guisso, Rehana Z. Hussain, Berge A. Minassian et autres

us (code pays fourni par la source)

Targeting Gys1 with AAV‐SaCas9 decreases pathogenic polyglucosan bodies and neuroinflammation in Adult Polyglucosan Body and Lafora disease mouse models

Emrah Gumusgoz, Dikran R. Guisso, Sahba Kasiri, Jun Wu et autres

Summary Many adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9 biotechnology holds great promise in neurological therapy, pending the clearance of major delivery, efficiency and specificity hurdles. We apply CRISPR/Cas9 genome editing in its simplest modality, namely inducing gene …

us (code pays fourni par la source)

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease

Saija Ahonen, Silvia Nitschke, Tamar R. Grossman, Holly Kordasiewicz et autres

Abstract Lafora disease is a fatal progressive myoclonus epilepsy. At root, it is due to constant acquisition of branches that are too long in a subgroup of glycogen molecules, leading them to precipitate and accumulate into Lafora bodies, which drive a neuroinflammatory …

ca, us (code pays fourni par la source)

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 …

ca, us (code pays fourni par la source)

Correction to: Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study

Dikran R. Guisso, Fadi Saadeh, Dahlia Saab, Joud El Deek et autres

lb (code pays fourni par la source)

Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study

Dikran R. Guisso, Fadi Saadeh, Dahlia Saab, Joud El Deek et autres

lb (code pays fourni par la source)