Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Katrina J Llewellyn"'
Autor:
Katrina J Llewellyn, Angèle Nalbandian, Lan N Weiss, Isabela Chang, Howard Yu, Bibo Khatib, Baichang Tan, Vanessa Scarfone, Virginia E Kimonis
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0176919 (2017)
Valosin Containing Protein (VCP) disease is an autosomal dominant multisystem proteinopathy caused by mutations in the VCP gene, and is primarily associated with progressive muscle weakness, including atrophy of the pelvic and shoulder girdle muscles
Externí odkaz:
https://doaj.org/article/af6202955bc24f2880bea5ee6ef749fc
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0122888 (2015)
Mutations in the valosin containing protein (VCP) gene cause hereditary Inclusion body myopathy (hIBM) associated with Paget disease of bone (PDB), frontotemporal dementia (FTD), more recently termed multisystem proteinopathy (MSP). Affected individu
Externí odkaz:
https://doaj.org/article/5170ef3211304dc2837073b815c97eff
Autor:
Katrina J Llewellyn, Naomi Walker, Christopher Nguyen, Baichang Tan, Lbachir BenMohamed, Virginia E Kimonis, Angèle Nalbandian
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0131995 (2015)
The discovery of effective therapies and of disease mechanisms underlying valosin containing protein (VCP)-associated myopathies and neurodegenerative disorders remains elusive. VCP disease, caused by mutations in the VCP gene, are a clinically and g
Externí odkaz:
https://doaj.org/article/c9cf19ef26c44a0eab287f830120fe0b
Autor:
Angèle Nalbandian, Christopher Nguyen, Veeral Katheria, Katrina J Llewellyn, Mallikarjun Badadani, Vincent Caiozzo, Virginia E Kimonis
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76187 (2013)
The therapeutic effects of exercise resistance and endurance training in the alleviation of muscle hypertrophy/atrophy should be considered in the management of patients with advanced neuromuscular diseases. Patients with progressive neuromuscular di
Externí odkaz:
https://doaj.org/article/0107b613408b4fd2835c44f90efe35e6
Autor:
Angèle Nalbandian, Katrina J Llewellyn, Masashi Kitazawa, Hong Z Yin, Mallikarjun Badadani, Negar Khanlou, Robert Edwards, Christopher Nguyen, Jogeshwar Mukherjee, Tahseen Mozaffar, Giles Watts, John Weiss, Virginia E Kimonis
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e46308 (2012)
Valosin containing protein (VCP) mutations are the cause of hereditary inclusion body myopathy, Paget's disease of bone, frontotemporal dementia (IBMPFD). VCP gene mutations have also been linked to 2% of isolated familial amyotrophic lateral scleros
Externí odkaz:
https://doaj.org/article/bdb50ffd25de43ec960f7e68e71d8e7d
Autor:
Katrina J. Llewellyn, Angèle Nalbandian, Arianna Gomez, Don Wei, Naomi Walker, Virginia E. Kimonis
Publikováno v:
Neurobiology of Disease, Vol 76, Iss , Pp 77-86 (2015)
Genetic defects in the UBE3A gene, which encodes for the imprinted E6-AP ubiquitin E3 ligase (UBE3A), is responsible for the occurrence of Angelman syndrome (AS), a neurodegenerative disorder which arises in 1 out of every 12,000–20,000 births. Cla
Externí odkaz:
https://doaj.org/article/50d6741fa0c644ff929dfc72944f7ec6
Autor:
Katrina J. Llewellyn, Angèle Nalbandian, Arianna Gomez, Don Wei, Naomi Walker, Anh Bui, Hannah Kim, Ivan Soltesz, Virginia E. Kimonis
Publikováno v:
Neurobiology of Disease, Vol 78, Iss , Pp 56- (2015)
Externí odkaz:
https://doaj.org/article/e0990bdef6a547838f5282b796e257c8
Autor:
Erica Squire, Kwang-Mook Jung, Lan Weiss, Faizy Ahmed, Howard Yu, Daniele Piomelli, Angèle Nalbandian, Lac Ta, Katrina J. Llewellyn, Virginia Kimonis, Isabela Chang, Marco Migliore
Publikováno v:
Hum Mol Genet
Knock-in homozygote VCPR155H/R155H mutant mice are a lethal model of valosin-containing protein (VCP)-associated inclusion body myopathy associated with Paget disease of bone, frontotemporal dementia and amyotrophic lateral sclerosis. Ceramide (d18:1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32abe858f8087902fb4ad86ca59adc37
https://pubmed.ncbi.nlm.nih.gov/33410456
https://pubmed.ncbi.nlm.nih.gov/33410456
Autor:
Lbachir BenMohamed, Virginia Kimonis, Baichang Tan, Arif A. Khan, Nora Shukr, Angèle Nalbandian, Ruchi Srivastava, Katrina J. Llewellyn, Yasmin Fazli
Publikováno v:
Inflammation. 40:21-41
Aberrant activation of the NOD-like receptor (NLR) family, pyrin domain-containing protein 3 (NLRP3) inflammasome, triggers a pathogenic inflammatory response in many inherited neurodegenerative disorders. Inflammation has recently been associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74b10b42c3034438286c5fe24e782fd4
https://doi.org/10.1007/s10753-016-0449-5
https://doi.org/10.1007/s10753-016-0449-5
Autor:
Andrew J. Dunnigan, Hailing Su, Maria C. Kenney, Marilyn Chwa, Katrina J. Llewellyn, Virginia Kimonis, Arianna Gomez, Jouni Vesa, Naomi Walker, Angèle Nalbandian
Publikováno v:
Mitochondrion. 22:1-8
Mitochondrial dysfunction has recently been implicated as an underlying factor to several common neurodegenerative diseases, including Parkinson’s disease, Alzheimer’s and amyotrophic lateral sclerosis (ALS). Valosin containing protein (VCP)-asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412657b8fa1cc2f8ac434a558c91dd3a
https://doi.org/10.1016/j.mito.2015.02.004
https://doi.org/10.1016/j.mito.2015.02.004