Alexandre Janer
Overview
Explore the profile of Alexandre Janer including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
17
Citations
630
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Janer A, van Karnebeek C, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C, et al.
Eur J Hum Genet
. 2015 Jan;
23(10):1301-7.
PMID: 25604853
RMND1 is an integral inner membrane mitochondrial protein that assembles into a large 240 kDa complex to support translation of the 13 polypeptides encoded on mtDNA, all of which are...
12.
Chort A, Alves S, Marinello M, Dufresnois B, Dornbierer J, Tesson C, et al.
Brain
. 2013 Mar;
136(Pt 6):1732-45.
PMID: 23518714
We showed previously, in a cell model of spinocerebellar ataxia 7, that interferon beta induces the expression of PML protein and the formation of PML protein nuclear bodies that degrade...
13.
Mah W, Deme J, Watkins D, Fung S, Janer A, Shoubridge E, et al.
Mol Genet Metab
. 2012 Dec;
108(2):112-8.
PMID: 23270877
MMACHC and MMADHC are the genes responsible for cblC and cblD defects of vitamin B(12) metabolism, respectively. Patients with cblC and cblD defects present with various combinations of methylmalonic aciduria...
14.
Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown G, et al.
Am J Hum Genet
. 2012 Oct;
91(4):737-43.
PMID: 23022098
Mutations in the genes composing the mitochondrial translation apparatus are an important cause of a heterogeneous group of oxidative phosphorylation (OXPHOS) disorders. We studied the index case in a consanguineous...
15.
Cameron J, Janer A, Levandovskiy V, MacKay N, Rouault T, Tong W, et al.
Am J Hum Genet
. 2011 Sep;
89(4):486-95.
PMID: 21944046
Severe combined deficiency of the 2-oxoacid dehydrogenases, associated with a defect in lipoate synthesis and accompanied by defects in complexes I, II, and III of the mitochondrial respiratory chain, is...
16.
Janer A, Werner A, Takahashi-Fujigasaki J, Daret A, Fujigasaki H, Takada K, et al.
Hum Mol Genet
. 2009 Oct;
19(1):181-95.
PMID: 19843541
Post-translational modification by SUMO (small ubiquitin-like modifier) was proposed to modulate the pathogenesis of several neurodegenerative diseases. Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder, whose pathology is caused...
17.
Janer A, Martin E, Muriel M, Latouche M, Fujigasaki H, Ruberg M, et al.
J Cell Biol
. 2006 Jul;
174(1):65-76.
PMID: 16818720
The pathogenesis of spinocerebellar ataxia type 7 and other neurodegenerative polyglutamine (polyQ) disorders correlates with the aberrant accumulation of toxic polyQ-expanded proteins in the nucleus. Promyelocytic leukemia protein (PML) nuclear...