Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Ami Mankodi"'
Autor:
Yotam Blech-Hermoni, Kalpana Subedi, Maya Silver, Leah Jensen, Stephen Coscia, Malcolm M. Kates, Yongmei Zhao, Castle Raley, Nancy Edwards, Bao Tran, Abhik Ray-Chaudhary, Pankaj Pathak, Ami Mankodi
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract LIM domain-binding 3 (LDB3) is a member of the Enigma family of PDZ–LIM proteins. LDB3 has been reported as a striated muscle-specific Z-band alternatively spliced protein that plays an important role in mechanosensory actin cytoskeleton r
Externí odkaz:
https://doaj.org/article/9ee1bd97c6bb4527b3bc5e52e9a5cd0c
Autor:
Pankaj Pathak, Yotam Blech-Hermoni, Kalpana Subedi, Jessica Mpamugo, Charissa Obeng-Nyarko, Rachel Ohman, Ilda Molloy, Malcolm Kates, Jessica Hale, Stacey Stauffer, Shyam K. Sharan, Ami Mankodi
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-15 (2021)
Pathak et al. identify LDB3, a striated muscle PDZ-LIM protein, as a signaling adaptor in a major mechanosensor assembly through interactions with filamin C, HSPA8, and PKCα. When LDB3 is mutated, PKCα and TSC2-mTOR mediated homeostasis is impaired
Externí odkaz:
https://doaj.org/article/d4e302a88eb748a8be9622e9386d26e5
Autor:
Joshua J. Todd, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C. Chrismer, Carolyn Allen, Mary D. Meyer, Anna Kuo, Monique S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling, Katherine G. Meilleur
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
The ryanodine receptor 1-related congenital myopathies (RYR1-RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint co
Externí odkaz:
https://doaj.org/article/00dd881aa9694ede8ed4875c6ede7607
Autor:
Ami Mankodi, Thurman M. Wheeler, Reena Shetty, Kelly M. Salceies, Mark W. Becher, Charles A. Thornton
Publikováno v:
Neurobiology of Disease, Vol 45, Iss 1, Pp 539-546 (2012)
The genetic basis of oculopharyngeal muscular dystrophy (OPMD) is a short expansion of a polyalanine tract (normal allele: 10 alanines, mutant allele: 11–17 alanines) in the nuclear polyadenylate binding protein PABPN1 which is essential for contro
Externí odkaz:
https://doaj.org/article/ce060d860a204c9f87a2e6b85706322f
Autor:
Thomas C. Bulea, Amanda Guth, Nathan Sarkar, Andrew Gravunder, Bonnie Hodsdon, Kathleen Farrell, Leora E. Comis, Rebecca Parks, Hirity Shimellis, Vanessa Ndege, Pei-Shu Ho, Ami Mankodi
Publikováno v:
Neuromuscular Disorders. 32:321-331
Grip myotonia and weakness are attractive treatment response biomarkers in clinical trials of myotonic dystrophy type 1 (DM1). There is a need to develop simple, patient-friendly and reproducible methods of quantifying grip myotonia in multisite tria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff6736d577fd1b7d5d1d719c7092968e
https://doi.org/10.1016/j.nmd.2022.02.005
https://doi.org/10.1016/j.nmd.2022.02.005
Autor:
Yotam Blech-Hermoni, Jessica Hale, Pankaj Pathak, Rachel Ohman, Malcolm Kates, Kalpana Subedi, Stacey Stauffer, Ilda Molloy, Jessica Mpamugo, Charissa Obeng-Nyarko, Shyam K. Sharan, Ami Mankodi
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-15 (2021)
Communications Biology
Communications Biology
Mechanical stress induced by contractions constantly threatens the integrity of muscle Z-disc, a crucial force-bearing structure in striated muscle. The PDZ-LIM proteins have been proposed to function as adaptors in transducing mechanical signals to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::924fde6baa5f04f0561db0e0c767d422
https://doaj.org/article/d4e302a88eb748a8be9622e9386d26e5
https://doaj.org/article/d4e302a88eb748a8be9622e9386d26e5
Autor:
Yotam Blech-Hermoni, Kalpana Subedi, Maya Silver, Leah Jensen, Stephen Coscia, Malcolm M. Kates, Yongmei Zhao, Castle Raley, Nancy Edwards, Bao Tran, Abhik Ray-Chaudhary, Pankaj Pathak, Ami Mankodi
LIM domain-binding 3 (LDB3) is a member of the Enigma family of PDZ-LIM proteins. LDB3 has been reported as a striated muscle-specific Z-band alternatively spliced protein that plays an important role in mechanosensory actin cytoskeleton remodeling.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::034bdc5cfe6c9bdd1afa96cbaf634196
https://doi.org/10.21203/rs.3.rs-1685239/v1
https://doi.org/10.21203/rs.3.rs-1685239/v1
Autor:
Ronald M. Summers, William A. Gahl, Ronald Ouwerkerk, Chia-Ying Liu, Joseph A. Shrader, Jianhua Yao, Nuria Carrillo, Ami Mankodi, Galen O. Joe, William Kovacs
Publikováno v:
Neurology
ObjectiveTo characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (1H-MRS).MethodsSkeletal muscle imaging of the lower extremities was performe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72dc1f384c8b571a25286307ae50b19c
https://doi.org/10.1212/wnl.0000000000011231
https://doi.org/10.1212/wnl.0000000000011231
Autor:
Payam Mohassel, Sandra Donkervoort, Alice B. Schindler, Andrew E. Arai, Pomi Yun, Ranjini Srinivasan, S. Neuhaus, Carsten G. Bönnemann, Jahannaz Dastgir, Ami Mankodi, A. Reghan Foley
Publikováno v:
Neuromuscular Disorders. 30:742-749
Patients with bi-allelic loss-of-function mutations in the gene ANO5 most commonly present with muscular dystrophy. In some studies, patients with ANO5-related dystrophy (ANO5-RD) had evidence of mild cardiac abnormalities; however, cardiac magnetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417346cd85386291fe0bfd008f61aa60
https://doi.org/10.1016/j.nmd.2020.07.001
https://doi.org/10.1016/j.nmd.2020.07.001
Autor:
Perry K. Richardson, Mallory Owen, Ricardo H. Roda, Justin Y. Kwan, Shin J. Oh, Alice B. Schindler, Thomas E. Lloyd, Nathan Sarkar, Charlotte J. Sumner, Ami Mankodi, S. H. Subramony, Peter A. Calabresi, Joyce Lu, Thomas O. Crawford, Kenneth H. Fischbeck, Vinay Chaudhry, Christopher Grunseich, Kurenai Tanji
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
BackgroundWe used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres.MethodsWES was performed on 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63fb4f3b2dc9321d9d132cc11764e049
https://pubmed.ncbi.nlm.nih.gov/34103343
https://pubmed.ncbi.nlm.nih.gov/34103343