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Search Results - Weraarpachai, Woranontee
Search Results - Weraarpachai, Woranontee
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Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses
by
Straub, Isabella R
,
Weraarpachai, Woranontee
,
Shoubridge, Eric A
Published in
Human molecular genetics
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A High-Density Human Mitochondrial Proximity Interaction Network
by
Antonicka, Hana
,
Lin, Zhen-Yuan
,
Janer, Alexandre
,
Aaltonen, Mari J.
,
Weraarpachai, Woranontee
,
Gingras, Anne-Claude
,
Shoubridge, Eric A.
Published in
Cell metabolism
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MITRAC Links Mitochondrial Protein Translocation to Respiratory-Chain Assembly and Translational Regulation
by
Mick, David U.
,
Dennerlein, Sven
,
Wiese, Heike
,
Reinhold, Robert
,
Pacheu-Grau, David
,
Lorenzi, Isotta
,
Sasarman, Florin
,
Weraarpachai, Woranontee
,
Shoubridge, Eric A.
,
Warscheid, Bettina
,
Rehling, Peter
Published in
Cell
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Stomatin-like protein 2 deficiency results in impaired mitochondrial translation
by
Mitsopoulos, Panagiotis
,
Lapohos, Orsolya
,
Weraarpachai, Woranontee
,
Antonicka, Hana
,
Chang, Yu-Han
,
Madrenas, Joaquín
Published in
PloS one
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Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS
by
Straub, Isabella R
,
Janer, Alexandre
,
Weraarpachai, Woranontee
,
Zinman, Lorne
,
Robertson, Janice
,
Rogaeva, Ekaterina
,
Shoubridge, Eric A
Published in
Human molecular genetics
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Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis
by
Weraarpachai, Woranontee
,
Sasarman, Florin
,
Nishimura, Tamiko
,
Antonicka, Hana
,
Auré, Karine
,
Rötig, Agnès
,
Lombès, Anne
,
Shoubridge, Eric A.
Published in
American journal of human genetics
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Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome
by
Sasarman, Florin
,
Nishimura, Tamiko
,
Antonicka, Hana
,
Weraarpachai, Woranontee
,
Shoubridge, Eric A
Published in
Human molecular genetics
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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
by
Antonicka, Hana
,
Østergaard, Elsebet
,
Sasarman, Florin
,
Weraarpachai, Woranontee
,
Wibrand, Flemming
,
Pedersen, Anne Marie B.
,
Rodenburg, Richard J.
,
van der Knaap, Marjo S.
,
Smeitink, Jan A.M.
,
Chrzanowska-Lightowlers, Zofia M.
,
Shoubridge, Eric A.
Published in
American journal of human genetics
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Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
by
La Piana, Roberta
,
Weraarpachai, Woranontee
,
Ospina, Luis H.
,
Tetreault, Martine
,
Majewski, Jacek
,
Bruce Pike, G.
,
Decarie, Jean-Claude
,
Tampieri, Donatella
,
Brais, Bernard
,
Shoubridge, Eric A.
Published in
Neurogenetics
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The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
by
Sasarman, Florin
,
Thiffault, Isabelle
,
Weraarpachai, Woranontee
,
Salomon, Steven
,
Maftei, Catalina
,
Gauthier, Julie
,
Ellazam, Benjamin
,
Webb, Neil
,
Antonicka, Hana
,
Janer, Alexandre
,
Brunel-Guitton, Catherine
,
Elpeleg, Orly
,
Mitchell, Grant
,
Shoubridge, Eric A
Published in
Human molecular genetics
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The 3' addition of CCA to mitochondrial tRNA super(Ser(AGY)) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
by
Sasarman, Florin
,
Thiffault, Isabelle
,
Weraarpachai, Woranontee
,
Salomon, Steven
,
Maftei, Catalina
,
Gauthier, Julie
,
Ellazam, Benjamin
,
Webb, Neil
,
Antonicka, Hana
,
Janer, Alexandre
,
Brunel-Guitton, Catherine
,
Elpeleg, Orly
,
Mitchell, Grant
,
Shoubridge, Eric A
Published in
Human molecular genetics
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Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle
by
Smits, Paulien
,
Antonicka, Hana
,
van Hasselt, Peter M
,
Weraarpachai, Woranontee
,
Haller, Wolfram
,
Schreurs, Marieke
,
Venselaar, Hanka
,
Rodenburg, Richard J
,
Smeitink, Jan A
,
van den Heuvel, Lambert P
Published in
European journal of human genetics : EJHG
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