Search Results - "ELMALLAH, Mai K"

Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model by Stoica, Lorelei, Todeasa, Sophia H., Cabrera, Gabriela Toro, Salameh, Johnny S., ElMallah, Mai K., Mueller, Christian, Brown Jr, Robert H., Sena-Esteves, Miguel

“…Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by loss of motor neurons, resulting in progressive muscle…”
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Cross-species evolution of a highly potent AAV variant for therapeutic gene transfer and genome editing by Gonzalez, Trevor J., Simon, Katherine E., Blondel, Leo O., Fanous, Marco M., Roger, Angela L., Maysonet, Maribel Santiago, Devlin, Garth W., Smith, Timothy J., Oh, Daniel K., Havlik, L. Patrick, Castellanos Rivera, Ruth M., Piedrahita, Jorge A., ElMallah, Mai K., Gersbach, Charles A., Asokan, Aravind

“…Recombinant adeno-associated viral (AAV) vectors are a promising gene delivery platform, but ongoing clinical trials continue to highlight a relatively narrow…”
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Pathophysiology of Alpha-1 Antitrypsin Lung Disease by Kalfopoulos, Michael, Wetmore, Kaitlyn, ElMallah, Mai K

“…Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder characterized by low serum levels of alpha-1 antitrypsin (AAT). Loss of AAT disrupts the…”
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The respiratory neuromuscular system in Pompe disease by Fuller, David D, ElMallah, Mai K, Smith, Barbara K, Corti, Manuela, Lawson, Lee Ann, Falk, Darin J, Byrne, Barry J

“…Highlights • Pompe disease occurs due to mutations in the gene encoding the lysosomal enzyme acid α-glucosidase (GAA). • Respiratory insufficiency and tongue…”
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Sustained Correction of Motoneuron Histopathology Following Intramuscular Delivery of AAV in Pompe Mice by ElMallah, Mai K, Falk, Darin J, Nayak, Sushrusha, Federico, Roland A, Sandhu, Milapjit S, Poirier, Amy, Byrne, Barry J, Fuller, David D

“…Pompe disease is an autosomal recessive disorder caused by mutations in the acid-α glucosidase (GAA) gene. Lingual dysfunction is prominent but does not…”
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Respiratory pathology in the TDP-43 transgenic mouse model of amyotrophic lateral sclerosis by Biswas, Debolina D, Sethi, Ronit, Woldeyohannes, Yochebed, Scarrow, Evelyn R, El Haddad, Léa, Lee, Jane, ElMallah, Mai K

“…Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in death within 2-5 years of diagnosis. Respiratory failure is the…”
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Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases by McCall, Angela L, ElMallah, Mai K

“…The authors of the recently published, "Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases", provide an important review of the…”
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The Respiratory Phenotype of Pompe Disease Mouse Models by Fusco, Anna F, McCall, Angela L, Dhindsa, Justin S, Zheng, Lucy, Bailey, Aidan, Kahn, Amanda F, ElMallah, Mai K

“…Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal…”
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Airway smooth muscle dysfunction in Pompe ( Gaa -/- ) mice by Keeler, Allison M, Liu, Donghai, Zieger, Marina, Xiong, Lang, Salemi, Jeffrey, Bellvé, Karl, Byrne, Barry J, Fuller, David D, ZhuGe, Ronghua, ElMallah, Mai K

“…Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen…”
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Congenital lobar emphysema in monozygotic twins by Scott, Zeni, Zhou, Cynthia, Tracy, Elisabeth, ElMallah, Mai K., Yousef, Shatha

“…Congenital lobar emphysema (CLE) is caused by airway defects resulting in air trapping and hyperinflation of the affected lobe. Case reports of families…”
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Intrapleural Administration of AAV9 Improves Neural and Cardiorespiratory Function in Pompe Disease by Falk, Darin J, Mah, Cathryn S, Soustek, Meghan S, Lee, Kun-Ze, ElMallah, Mai K, Cloutier, Denise A, Fuller, David D, Byrne, Barry J

“…Pompe disease is a neuromuscular disease resulting from deficiency in acid α-glucosidase (GAA), results in cardiac, skeletal muscle, and central nervous system…”
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The impact of Pompe disease on smooth muscle: a review by MCCALL, Angela L., SALEMI, Jeffrey, BHANAP, Preeti, STRICKLAND, Laura M., ELMALLAH, Mai K.

“…Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid α-glucosidase (GAA) (EC 3.2.1.20), the enzyme…”
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Neuropathology in respiratory-related motoneurons in young Pompe ( Gaa−/− ) mice by Turner, Sara M.F, Hoyt, Aaron K, ElMallah, Mai K, Falk, Darin J, Byrne, Barry J, Fuller, David D

“…Highlights • Brainstem and spinal cord neuropathology was studied in young asymptomatic Pompe ( Gaa−/− ) mice. • Overt histopathology and glycogen accumulation…”
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Glycogen accumulation in smooth muscle of a Pompe disease mouse model by McCall, Angela L., Dhindsa, Justin S., Bailey, Aidan M., Pucci, Logan A., Strickland, Laura M., ElMallah, Mai K.

“…Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)—an enzyme necessary for lysosomal…”
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Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7 by Fusco, Anna F, Pucci, Logan A, Switonski, Pawel M, Biswas, Debolina D, McCall, Angela L, Kahn, Amanda F, Dhindsa, Justin S, Strickland, Laura M, La Spada, Albert R, ElMallah, Mai K

“…Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7…”
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X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease by Gromova, Anastasia, Cha, Byeonggu, Robinson, Erica M, Strickland, Laura M, Nguyen, Nhat, ElMallah, Mai K, Cortes, Constanza J, La Spada, Albert R

“…X-linked spinal and bulbar muscular atrophy (SBMA; Kennedy's disease) is a rare neuromuscular disorder characterized by adult-onset proximal muscle weakness…”
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Intralingual and Intrapleural AAV Gene Therapy Prolongs Survival in a SOD1 ALS Mouse Model by Keeler, Allison M., Zieger, Marina, Semple, Carson, Pucci, Logan, Veinbachs, Alessandra, Brown, Robert H., Mueller, Christian, ElMallah, Mai K.

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that results in death from respiratory failure. No cure exists for this devastating…”
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt by Cocanougher, Benjamin T., Liu, Samuel W., Francescatto, Ludmila, Behura, Alexander, Anneling, Mariele, Jackson, David G., Deak, Kristen L., Hornik, Chi D., ElMallah, Mai K., Pizoli, Carolyn E., Smith, Edward C., Tan, Khoon Ghee Queenie, McDonald, Marie T.

“…Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular…”
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Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease by Han, Sang-oh, Li, Songtao, McCall, Angela, Arnson, Benjamin, Everitt, Jeffrey I., Zhang, Haoyue, Young, Sarah P., ElMallah, Mai K., Koeberl, Dwight D.

“…Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA). It is expected that gene therapy to replace GAA with adeno-associated virus…”
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Hypoglossal neuropathology and respiratory activity in pompe mice by Lee, Kun-Ze, Qiu, Kai, Sandhu, Milapjit S, Elmallah, Mai K, Falk, Darin J, Lane, Michael A, Reier, Paul J, Byrne, Barry J, Fuller, David D

“…Pompe disease is a lysosomal storage disorder associated with systemic deficiency of acid α-glucosidase (GAA). Respiratory-related problems in Pompe disease…”
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