Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Benoit J. Gentil"'
Autor:
Afrooz Dabbaghizadeh, Alexandre Paré, Zacharie Cheng-Boivin, Robin Dagher, Sandra Minotti, Marie-Josée Dicaire, Bernard Brais, Jason C. Young, Heather D. Durham, Benoit J. Gentil
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15742 (2022)
Autosomal Recessive Spastic Ataxia of the Charlevoix Saguenay (ARSACS) is caused by mutation in the SACS gene resulting in loss of function of the protein sacsin. A key feature is the formation of abnormal bundles of neurofilaments (NF) in neurons an
Externí odkaz:
https://doaj.org/article/7450367caf1a4e8f95179b3ef9912da8
Autor:
Doris Lou Demy, Maria Letizia Campanari, Raphael Munoz-Ruiz, Heather D. Durham, Benoit J. Gentil, Edor Kabashi
Publikováno v:
Cells, Vol 9, Iss 5, p 1238 (2020)
Neurofilaments (NFs), a major cytoskeletal component of motor neurons, play a key role in the differentiation, establishment and maintenance of their morphology and mechanical strength. The de novo assembly of these neuronal intermediate filaments re
Externí odkaz:
https://doaj.org/article/d61295b1c8d9429d9fb15f252790ddec
Autor:
Young Jc, Bernard B, Benoit J. Gentil, Dicaire M, Sandra Minotti, Dabbaghizadeh A, Dagher R, Cheng-Boivin Z, Heather D. Durham, Paré A
Autosomal Recessive Spastic Ataxia of the Charlevoix Saguenay (ARSACS), is caused by loss of function mutations in the SACS gene, which encodes sacsin, a giant protein of 520 kDa. A key feature of the absence of sacsin in cells is the formation of ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a22f7b7e83a0faccc72f1212d0a077be
https://doi.org/10.1101/2021.07.14.452331
https://doi.org/10.1101/2021.07.14.452331
Autor:
Marie Ménade, Kalle Gehring, Benoit J. Gentil, Roxanne Larivière, Sandra Minotti, Gia-Thanh Lai, Bernard Brais, J. Paul Chapple, Heather D. Durham
Publikováno v:
The FASEB Journal. 33:2982-2994
Loss of sacsin, a large 520 kDa multidomain protein, causes autosomal recessive spastic ataxia of the Charlevoix-Saguenay, one of the most common childhood-onset recessive ataxias. A prominent feature is abnormal bundling of neurofilaments in many ne
Publikováno v:
Molecular genetics and metabolism. 133(1)
Mutations in the HADHB gene lead to Mitochondrial Trifunctional Protein (MTP) deficiency. MTP deficiency is a rare autosomal recessive disorder affecting long-chain fatty acid oxidation. Patients affected by MTP deficiency are unable to metabolize lo
Autor:
Jacques Baudier, Benoit J. Gentil
Publikováno v:
Biomolecules
Biomolecules, MDPI, 2020, 10, ⟨10.3390/biom10060843⟩
Biomolecules, 2020, 10, ⟨10.3390/biom10060843⟩
Biomolecules, Vol 10, Iss 843, p 843 (2020)
Biomolecules, MDPI, 2020, 10, ⟨10.3390/biom10060843⟩
Biomolecules, 2020, 10, ⟨10.3390/biom10060843⟩
Biomolecules, Vol 10, Iss 843, p 843 (2020)
International audience; In mammals, adipose tissue is an active secretory tissue that responds to mild hypothermia and as such is a genuine model to study molecular and cellular adaptive responses to cold-stress. A recent study identified a mammal-sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96cf9914f267b0d647926a8d8b0de1e8
https://hal-amu.archives-ouvertes.fr/hal-03141560
https://hal-amu.archives-ouvertes.fr/hal-03141560
Autor:
Benoit J. Gentil, María Letizia Campanari, Edor Kabashi, Raphael Munoz-Ruiz, Doris Lou Demy, Heather D. Durham
Publikováno v:
Cells
Cells, MDPI, 2020, 9 (5), pp.1238. ⟨10.3390/cells9051238⟩
Cells, Vol 9, Iss 1238, p 1238 (2020)
Cells, 2020, 9 (5), pp.1238. ⟨10.3390/cells9051238⟩
Volume 9
Issue 5
Cells, MDPI, 2020, 9 (5), pp.1238. ⟨10.3390/cells9051238⟩
Cells, Vol 9, Iss 1238, p 1238 (2020)
Cells, 2020, 9 (5), pp.1238. ⟨10.3390/cells9051238⟩
Volume 9
Issue 5
Neurofilaments (NFs), a major cytoskeletal component of motor neurons, play a key role in the differentiation, establishment and maintenance of their morphology and mechanical strength. The de novo assembly of these neuronal intermediate filaments re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f38faab1820ac53b9230ec91a26e3b8
https://hal.sorbonne-universite.fr/hal-03152405/document
https://hal.sorbonne-universite.fr/hal-03152405/document
Autor:
Heather D. Durham, Raphael Munoz-Ruiz, Doris Lou Demy, Edor Kabashi, María Letizia Campanari, Benoit J. Gentil
Neurofilaments (NFs), a major cytoskeletal component of motor neurons, play a key role in their differentiation, establishment and maintenance of their morphology and mechanical strength. Thede novoassembly of these neuronal intermediate filaments re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bc53ba634dedddbc18e98f9f6575159
https://doi.org/10.1101/2020.04.27.064063
https://doi.org/10.1101/2020.04.27.064063
Autor:
Andreas Hermann, Arun Pal, Heather D. Durham, Kyle St. Louis, Sandra Minotti, Mario Fernandez, Rachel Kuta, Josephine Nalbantoglu, Michael Tibshirani, Nancy Larochelle, Benoit J. Gentil
Publikováno v:
Cell Stress & Chaperones
Cell stress & chaperones 25(1), 173-191 (2020). doi:10.1007/s12192-019-01064-1
Cell stress & chaperones 25(1), 173-191 (2020). doi:10.1007/s12192-019-01064-1
Upregulation of heat shock proteins (HSPs) is an approach to treatment of neurodegenerative disorders with impaired proteostasis. Many neurons, including motor neurons affected in amyotrophic lateral sclerosis (ALS), are relatively resistant to stres
Autor:
Ekaterina Rogaeva, Julia Keith, Janice Robertson, Heather D. Durham, Benoit J. Gentil, Christine Marques, Beibei Zhao, Caroline Rouaux, Lorne Zinman, Sandra Minotti, Michael Tibshirani
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (21), pp.4142-4152. ⟨10.1093/hmg/ddx301⟩
Human Molecular Genetics, 2017, 26 (21), pp.4142-4152. ⟨10.1093/hmg/ddx301⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (21), pp.4142-4152. ⟨10.1093/hmg/ddx301⟩
Human Molecular Genetics, 2017, 26 (21), pp.4142-4152. ⟨10.1093/hmg/ddx301⟩
International audience; Amyotrophic lateral sclerosis is a fatal neurodegenerative disease with paralysis resulting from dysfunction and loss of motor neurons. A common neuropathological finding is attrition of motor neuron dendrites, which make cent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131ff34cb0fcb1cd5c047a64d916b0e8
https://www.hal.inserm.fr/inserm-03375235/document
https://www.hal.inserm.fr/inserm-03375235/document