Literature DB >> 6114432

Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis.

W Blom, S M de Muinck Keizer, H R Scholte.   

Abstract

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Year:  1981        PMID: 6114432     DOI: 10.1056/NEJM198108203050820

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  9 in total

1.  Acetyl-CoA carboxylase inhibition regulates microtubule dynamics and intracellular transport in cystic fibrosis epithelial cells.

Authors:  Sharon M Rymut; Binyu Lu; Aura Perez; Deborah A Corey; Kata Lamb; Calvin U Cotton; Thomas J Kelley
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2019-03-20       Impact factor: 5.464

Review 2.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

3.  Biotinidase deficiency: a survey of 10 cases.

Authors:  H J Wastell; K Bartlett; G Dale; A Shein
Journal:  Arch Dis Child       Date:  1988-10       Impact factor: 3.791

4.  Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.

Authors:  S Packman; S C Whitney; M Fitch; S E Fleming
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features.

Authors:  Xiaoting Lou; Xiyue Zhou; Haiyan Li; Xiangpeng Lu; Xinzhu Bao; Kaiqiang Yang; Xin Liao; Hanxiao Chen; Hezhi Fang; Yanling Yang; Jianxin Lyu; Hong Zheng
Journal:  Front Cell Dev Biol       Date:  2021-09-06

6.  Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder.

Authors:  Rebeca Borges-Monroy; Chong Chu; Caroline Dias; Jaejoon Choi; Soohyun Lee; Yue Gao; Taehwan Shin; Peter J Park; Christopher A Walsh; Eunjung Alice Lee
Journal:  Mob DNA       Date:  2021-11-27

7.  SNP discovery and association study for growth, fatness and meat quality traits in Iberian crossbred pigs.

Authors:  C Óvilo; N Trakooljul; Y Núñez; F Hadlich; E Murani; M Ayuso; C García-Contreras; M Vázquez-Gómez; A I Rey; F Garcia; J M García-Casco; C López-Bote; B Isabel; A González-Bulnes; K Wimmers; M Muñoz
Journal:  Sci Rep       Date:  2022-09-30       Impact factor: 4.996

8.  Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.

Authors:  Francesca E Mackenzie; Rosario Romero; Debbie Williams; Thomas Gillingwater; Helen Hilton; Jim Dick; Joanna Riddoch-Contreras; Frances Wong; Lisa Ireson; Nicola Powles-Glover; Genna Riley; Peter Underhill; Tertius Hough; Ruth Arkell; Linda Greensmith; Richard R Ribchester; Gonzalo Blanco
Journal:  Hum Mol Genet       Date:  2009-07-04       Impact factor: 6.150

9.  Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Authors:  Tuomas O Kilpeläinen; Amy R Bentley; Raymond Noordam; Yun Ju Sung; Karen Schwander; Thomas W Winkler; Hermina Jakupović; Daniel I Chasman; Alisa Manning; Ioanna Ntalla; Hugues Aschard; Michael R Brown; Lisa de Las Fuentes; Nora Franceschini; Xiuqing Guo; Dina Vojinovic; Stella Aslibekyan; Mary F Feitosa; Minjung Kho; Solomon K Musani; Melissa Richard; Heming Wang; Zhe Wang; Traci M Bartz; Lawrence F Bielak; Archie Campbell; Rajkumar Dorajoo; Virginia Fisher; Fernando P Hartwig; Andrea R V R Horimoto; Changwei Li; Kurt K Lohman; Jonathan Marten; Xueling Sim; Albert V Smith; Salman M Tajuddin; Maris Alver; Marzyeh Amini; Mathilde Boissel; Jin Fang Chai; Xu Chen; Jasmin Divers; Evangelos Evangelou; Chuan Gao; Mariaelisa Graff; Sarah E Harris; Meian He; Fang-Chi Hsu; Anne U Jackson; Jing Hua Zhao; Aldi T Kraja; Brigitte Kühnel; Federica Laguzzi; Leo-Pekka Lyytikäinen; Ilja M Nolte; Rainer Rauramaa; Muhammad Riaz; Antonietta Robino; Rico Rueedi; Heather M Stringham; Fumihiko Takeuchi; Peter J van der Most; Tibor V Varga; Niek Verweij; Erin B Ware; Wanqing Wen; Xiaoyin Li; Lisa R Yanek; Najaf Amin; Donna K Arnett; Eric Boerwinkle; Marco Brumat; Brian Cade; Mickaël Canouil; Yii-Der Ida Chen; Maria Pina Concas; John Connell; Renée de Mutsert; H Janaka de Silva; Paul S de Vries; Ayşe Demirkan; Jingzhong Ding; Charles B Eaton; Jessica D Faul; Yechiel Friedlander; Kelley P Gabriel; Mohsen Ghanbari; Franco Giulianini; Chi Charles Gu; Dongfeng Gu; Tamara B Harris; Jiang He; Sami Heikkinen; Chew-Kiat Heng; Steven C Hunt; M Arfan Ikram; Jost B Jonas; Woon-Puay Koh; Pirjo Komulainen; Jose E Krieger; Stephen B Kritchevsky; Zoltán Kutalik; Johanna Kuusisto; Carl D Langefeld; Claudia Langenberg; Lenore J Launer; Karin Leander; Rozenn N Lemaitre; Cora E Lewis; Jingjing Liang; Jianjun Liu; Reedik Mägi; Ani Manichaikul; Thomas Meitinger; Andres Metspalu; Yuri Milaneschi; Karen L Mohlke; Thomas H Mosley; Alison D Murray; Mike A Nalls; Ei-Ei Khaing Nang; Christopher P Nelson; Sotoodehnia Nona; Jill M Norris; Chiamaka Vivian Nwuba; Jeff O'Connell; Nicholette D Palmer; George J Papanicolau; Raha Pazoki; Nancy L Pedersen; Annette Peters; Patricia A Peyser; Ozren Polasek; David J Porteous; Alaitz Poveda; Olli T Raitakari; Stephen S Rich; Neil Risch; Jennifer G Robinson; Lynda M Rose; Igor Rudan; Pamela J Schreiner; Robert A Scott; Stephen S Sidney; Mario Sims; Jennifer A Smith; Harold Snieder; Tamar Sofer; John M Starr; Barbara Sternfeld; Konstantin Strauch; Hua Tang; Kent D Taylor; Michael Y Tsai; Jaakko Tuomilehto; André G Uitterlinden; M Yldau van der Ende; Diana van Heemst; Trudy Voortman; Melanie Waldenberger; Patrik Wennberg; Gregory Wilson; Yong-Bing Xiang; Jie Yao; Caizheng Yu; Jian-Min Yuan; Wei Zhao; Alan B Zonderman; Diane M Becker; Michael Boehnke; Donald W Bowden; Ulf de Faire; Ian J Deary; Paul Elliott; Tõnu Esko; Barry I Freedman; Philippe Froguel; Paolo Gasparini; Christian Gieger; Norihiro Kato; Markku Laakso; Timo A Lakka; Terho Lehtimäki; Patrik K E Magnusson; Albertine J Oldehinkel; Brenda W J H Penninx; Nilesh J Samani; Xiao-Ou Shu; Pim van der Harst; Jana V Van Vliet-Ostaptchouk; Peter Vollenweider; Lynne E Wagenknecht; Ya X Wang; Nicholas J Wareham; David R Weir; Tangchun Wu; Wei Zheng; Xiaofeng Zhu; Michele K Evans; Paul W Franks; Vilmundur Gudnason; Caroline Hayward; Bernardo L Horta; Tanika N Kelly; Yongmei Liu; Kari E North; Alexandre C Pereira; Paul M Ridker; E Shyong Tai; Rob M van Dam; Ervin R Fox; Sharon L R Kardia; Ching-Ti Liu; Dennis O Mook-Kanamori; Michael A Province; Susan Redline; Cornelia M van Duijn; Jerome I Rotter; Charles B Kooperberg; W James Gauderman; Bruce M Psaty; Kenneth Rice; Patricia B Munroe; Myriam Fornage; L Adrienne Cupples; Charles N Rotimi; Alanna C Morrison; Dabeeru C Rao; Ruth J F Loos
Journal:  Nat Commun       Date:  2019-01-22       Impact factor: 17.694

  9 in total

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