Delphine Bohl
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Explore the profile of Delphine Bohl including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Khan Z, Terrien E, Delhommel F, Lefebvre-Omar C, Bohl D, Vitry S, et al.
J Biol Chem
. 2019 Jul;
294(37):13755-13768.
PMID: 31346033
Protection of neuronal homeostasis is a major goal in the management of neurodegenerative diseases. Microtubule-associated Ser/Thr kinase 2 (MAST2) inhibits neurite outgrowth, and its inhibition therefore represents a potential therapeutic...
12.
Genin E, Hounoum B, Bannwarth S, Fragaki K, Lacas-Gervais S, Mauri-Crouzet A, et al.
Acta Neuropathol
. 2019 Mar;
138(1):123-145.
PMID: 30874923
Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial protein. We reported patients, carrying the p.Ser59Leu heterozygous mutation...
13.
Guo W, Naujock M, Fumagalli L, Vandoorne T, Baatsen P, Boon R, et al.
Nat Commun
. 2017 Oct;
8(1):861.
PMID: 29021520
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder due to selective loss of motor neurons (MNs). Mutations in the fused in sarcoma (FUS) gene can cause both juvenile...
14.
Teyssou E, Chartier L, Amador M, Lam R, Lautrette G, Nicol M, et al.
Neurobiol Aging
. 2017 Jul;
58:239.e11-239.e20.
PMID: 28716533
Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report...
15.
Kouroupi G, Taoufik E, Vlachos I, Tsioras K, Antoniou N, Papastefanaki F, et al.
Proc Natl Acad Sci U S A
. 2017 Apr;
114(18):E3679-E3688.
PMID: 28416701
α-Synuclein (αSyn) is the major gene linked to sporadic Parkinson's disease (PD), whereas the G209A (p.A53T) αSyn mutation causes a familial form of PD characterized by early onset and a...
16.
Deflorio C, Blanchard S, Carisi M, Bohl D, Maskos U
FASEB J
. 2016 Nov;
31(2):828-839.
PMID: 27856558
Tobacco smoking is a public health problem, with ∼5 million deaths per year, representing a heavy burden for many countries. No effective therapeutic strategies are currently available for nicotine addiction,...
17.
Bohl D
Biol Aujourdhui
. 2016 Jun;
210(1):27-36.
PMID: 27286578
Among motor neuron diseases, spinal muscular atrophy type 1 and amyotrophic lateral sclerosis are very aggressive diseases with no cure. With the breakthrough of human induced pluripotent stem cells, iPS,...
18.
Gautier C, Erpapazoglou Z, Mouton-Liger F, Muriel M, Cormier F, Bigou S, et al.
Hum Mol Genet
. 2016 May;
25(14):2972-2984.
PMID: 27206984
Mutations in PARK2, encoding the E3 ubiquitin protein ligase Parkin, are a common cause of autosomal recessive Parkinson's disease (PD). Loss of PARK2 function compromises mitochondrial quality by affecting mitochondrial...
19.
Toli D, Buttigieg D, Blanchard S, Lemonnier T, Lamotte dIncamps B, Bellouze S, et al.
Neurobiol Dis
. 2015 Jun;
82:269-280.
PMID: 26107889
Amyotrophic lateral sclerosis (ALS) is a severe and incurable neurodegenerative disease. Human motor neurons generated from induced pluripotent stem cells (iPSc) offer new perspectives for disease modeling and drug testing...
20.
Bohl D, Pochet R, Mitrecic D, Nicaise C
Curr Stem Cell Res Ther
. 2015 May;
11(4):301-12.
PMID: 26018231
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease affecting primarily the population of motor neurons, even though a non-cell autonomous component, involving neighbouring non-neuronal cells, is more and more...