Výsledky vyhledávání - "Brett H Graham"

Akademický článek

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.

Autor: Michael F Wangler, Yu-Hsin Chao, Vafa Bayat, Nikolaos Giagtzoglou, Abhijit Babaji Shinde, Nagireddy Putluri, Cristian Coarfa, Taraka Donti, Brett H Graham, Joseph E Faust, James A McNew, Ann Moser, Marco Sardiello, Myriam Baes, Hugo J Bellen

Publikováno v: PLoS Genetics, Vol 13, Iss 6, p e1006825 (2017)

Peroxisome biogenesis disorders (PBD) are a group of multi-system human diseases due to mutations in the PEX genes that are responsible for peroxisome assembly and function. These disorders lead to global defects in peroxisomal function and result in

Externí odkaz: https://doaj.org/article/a411cd9c76e04da8a08bc9a25df2853f

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Akademický článek

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration

Autor: Kuchuan Chen, Guang Lin, Nele A Haelterman, Tammy Szu-Yu Ho, Tongchao Li, Zhihong Li, Lita Duraine, Brett H Graham, Manish Jaiswal, Shinya Yamamoto, Matthew N Rasband, Hugo J Bellen

Publikováno v: eLife, Vol 5 (2016)

Mutations in Frataxin (FXN) cause Friedreich’s ataxia (FRDA), a recessive neurodegenerative disorder. Previous studies have proposed that loss of FXN causes mitochondrial dysfunction, which triggers elevated reactive oxygen species (ROS) and leads

Externí odkaz: https://doaj.org/article/d43500dee4974bd596fee8b639e61034

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Akademický článek

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.

Autor: Manish Jaiswal, Nele A Haelterman, Hector Sandoval, Bo Xiong, Taraka Donti, Auinash Kalsotra, Shinya Yamamoto, Thomas A Cooper, Brett H Graham, Hugo J Bellen

Publikováno v: PLoS Biology, Vol 13, Iss 7, p e1002197 (2015)

Two insults often underlie a variety of eye diseases including glaucoma, optic atrophy, and retinal degeneration--defects in mitochondrial function and aberrant Rhodopsin trafficking. Although mitochondrial defects are often associated with oxidative

Externí odkaz: https://doaj.org/article/7b410a2080c44e21a5de764286457421

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Akademický článek

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

Autor: Hector Sandoval, Chi-Kuang Yao, Kuchuan Chen, Manish Jaiswal, Taraka Donti, Yong Qi Lin, Vafa Bayat, Bo Xiong, Ke Zhang, Gabriela David, Wu-Lin Charng, Shinya Yamamoto, Lita Duraine, Brett H Graham, Hugo J Bellen

Publikováno v: eLife, Vol 3 (2014)

Mitochondrial fusion and fission affect the distribution and quality control of mitochondria. We show that Marf (Mitochondrial associated regulatory factor), is required for mitochondrial fusion and transport in long axons. Moreover, loss of Marf lea

Externí odkaz: https://doaj.org/article/2d6f9a4e1a134a21898c519ca66c09b9

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Akademický článek

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.

Publikováno v: PLoS Biology, Vol 10, Iss 3, p e1001288 (2012)

An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and neurological diseases such as Leigh Syndrome. In a forward genetic screen to identify genes required f

Externí odkaz: https://doaj.org/article/49c361fbff384663a3cdb4b3869b2dcd

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Akademický článek

Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism

Autor: Makayla S. Lancaster, Byungwook Kim, Emma H. Doud, Mason D. Tate, Ahmad D. Sharify, Hongyu Gao, Duojiao Chen, Ed Simpson, Patrick Gillespie, Xiaona Chu, Marcus J. Miller, Yue Wang, Yunlong Liu, Amber L. Mosley, Jungsu Kim, Brett H. Graham

Publikováno v: Cell Reports, Vol 42, Iss 10, Pp 113241- (2023)

Summary: Lysine succinylation is a subtype of protein acylation associated with metabolic regulation of succinyl-CoA in the tricarboxylic acid cycle. Deficiency of succinyl-CoA synthetase (SCS), the tricarboxylic acid cycle enzyme catalyzing the inte

Externí odkaz: https://doaj.org/article/3667fe089082442185bcfa19a5753f0c

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Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

Autor: Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscò, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin McGinnis, John Millichap, Jiddeke M van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther AR Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E Stevenson, Gijs W.E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou

PURPOSECoffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. TheSMARCC2BAFopathy was recently reported. Herein, we present clinical and molecular data on a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c27085d1605a13771b0976056173917e
https://doi.org/10.1101/2023.03.30.23287962

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