Výsledky vyhledávání - "Angèle Nalbandian"

Akademický článek

Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome

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

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Akademický článek

Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery.

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

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Akademický článek

Corrigendum to 'Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman Syndrome' [Neurobiol. Dis. 76C (2015) 77–86]

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

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Akademický článek

Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy.

Autor: Angèle Nalbandian, Katrina J Llewellyn, Christopher Nguyen, Puya G Yazdi, Virginia E Kimonis

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

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Akademický článek

A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy.

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

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Akademický článek

Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease.

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

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Akademický článek

The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology.

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

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Akademický článek

VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease.

Autor: Mallikarjun Badadani, Angèle Nalbandian, Giles D Watts, Jouni Vesa, Masashi Kitazawa, Hailing Su, Jasmin Tanaja, Eric Dec, Douglas C Wallace, Jogeshwar Mukherjee, Vincent Caiozzo, Matthew Warman, Virginia E Kimonis

Publikováno v: PLoS ONE, Vol 5, Iss 10, p e13183 (2010)

Dominant mutations in the valosin containing protein (VCP) gene cause inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD). We have generated a knock-in mouse model with the common R155H mutation. Mice

Externí odkaz: https://doaj.org/article/2cdd0745e5b14c47b170f59034a2bb34

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