Publications:

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Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.

Iscience

Xia, Chuanwu C; Lou, Baoying B; Fu, Zhuji Z; Mohsen, Al-Walid AW; Shen, Anna L AL; Vockley, Jerry J; Kim, Jung-Ja P JP

Publication Date: 2021-10-22

Variant appearance in text: ACAD9: R469W

PubMed Link: 34646991

Variant Present in the following documents:

• Main text
• main.pdf

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Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.

Journal Of Neuromuscular Diseases

Tiet, May Yung MY; Lin, Zhiyuan Z; Gao, Fei F; Jennings, Matthew James MJ; Horvath, Rita R

Publication Date: 2021

Variant appearance in text: ACAD9: 1405C>T; Arg469Trp

PubMed Link: 34308912

Variant Present in the following documents:

• jnd-8-jnd210715-s002.xlsx, sheet 2

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Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.

Journal Of Neuromuscular Diseases

Tiet, May Yung MY; Lin, Zhiyuan Z; Gao, Fei F; Jennings, Matthew James MJ; Horvath, Rita R

Publication Date: 2021

Variant appearance in text: ACAD9: 1405C>T; Arg469Trp

PubMed Link: 34308912

Variant Present in the following documents:

• jnd-8-jnd210715-s002.xlsx, sheet 2

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ACAD9: 1405C>T; Arg469Trp; rs139145143

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Ebiomedicine

Tan, Jing J; Wagner, Matias M; Stenton, Sarah L SL; Strom, Tim M TM; Wortmann, Saskia B SB; Prokisch, Holger H; Meitinger, Thomas T; Oexle, Konrad K; Klopstock, Thomas T

Publication Date: 2020-04

Variant appearance in text: ACAD9: 1405C>T; Arg469Trp

PubMed Link: 32305867

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: ACAD9: R469W

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

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Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.

Frontiers In Molecular Biosciences

Giachin, Gabriele G; Bouverot, Romain R; Acajjaoui, Samira S; Pantalone, Serena S; Soler-López, Montserrat M

Publication Date: 2016

Variant appearance in text: ACAD9: R469W

PubMed Link: 27597947

Variant Present in the following documents:

• Main text
• fmolb-03-00043.pdf

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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

European Journal Of Human Genetics : Ejhg

Collet, Marie M; Assouline, Zahra Z; Bonnet, Damien D; Rio, Marlène M; Iserin, Franck F; Sidi, Daniel D; Goldenberg, Alice A; Lardennois, Caroline C; Metodiev, Metodi Dimitrov MD; Haberberger, Birgit B; Haack, Tobias T; Munnich, Arnold A; Prokisch, Holger H; Rötig, Agnès A

Publication Date: 2016-08

Variant appearance in text: ACAD9: 1405C>T; Arg469Trp

PubMed Link: 26669660

Variant Present in the following documents:

• Main text

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Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Human Molecular Genetics

Schiff, Manuel M; Haberberger, Birgit B; Xia, Chuanwu C; Mohsen, Al-Walid AW; Goetzman, Eric S ES; Wang, Yudong Y; Uppala, Radha R; Zhang, Yuxun Y; Karunanidhi, Anuradha A; Prabhu, Dolly D; Alharbi, Hana H; Prochownik, Edward V EV; Haack, Tobias T; Häberle, Johannes J; Munnich, Arnold A; Rötig, Agnes A; Taylor, Robert W RW; Nicholls, Robert D RD; Kim, Jung-Ja JJ; Prokisch, Holger H; Vockley, Jerry J

Publication Date: 2015-06-01

Variant appearance in text: ACAD9: R469W

PubMed Link: 25721401

Variant Present in the following documents:

• Main text

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A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

Jimd Reports

Nouws, Jessica J; Wibrand, Flemming F; van den Brand, Mariël M; Venselaar, Hanka H; Duno, Morten M; Lund, Allan M AM; Trautner, Simon S; Nijtmans, Leo L; Ostergard, Elsebet E

Publication Date: 2014

Variant appearance in text: ACAD9: Arg469Trp

PubMed Link: 23996478

Variant Present in the following documents:

• Main text

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Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

Seminars In Fetal & Neonatal Medicine

Diaz, Francisca F; Kotarsky, Heike H; Fellman, Vineta V; Moraes, Carlos T CT

Publication Date: 2011-08

Variant appearance in text: ACAD9: R469W

PubMed Link: 21680271

Variant Present in the following documents:

• Main text

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