THE CHARCOT-MARIE-TOOTH RELATED GENE GDAP1 COMPLEMENTS CELL CYCLE DELAY AT G2/M IN S. cerevisiae fis1 DEFECTIVE CELLS
نویسندگان
چکیده
From the Genetics and Molecular Medicine Unit, Instituto de Biomedicina de Valencia-CSIC, C/ Jaume Roig, 11, 46010, Valencia, Spain, CIBER de Enfermedades Raras (CIBERER), C/ Álvaro de Bazán, 10 bajo, 46010, Valencia, Spain, and the Department of Cell Biology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Running title: GDAP1 complements fis1Δ phenotype in S. cerevisiae. Address correspondence to: Francesc Palau, MD, PhD, Instituto de Biomedicina de Valencia-CSIC, C/ Jaume Roig, 11, 46010, Valencia, Spain. (+34) 963393773. Fax: (+34) 963690800. e-mail: [email protected]
منابع مشابه
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.
Mutations in the Ganglioside-induced differentiation-associated protein-1 (GDAP1) gene cause autosomal recessive Charcot-Marie-Tooth disease type 4A. The protein encoded by GDAP1 shows clear similarity to glutathione transferases (also known as glutathione S-transferases or GSTs). The human genome contains a paralog of GDAP1 called GDAP1L1. Using comparative genomics, we show that orthologs of ...
متن کاملGDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene, cause Charcot-Marie-Tooth (CMT) type 4A, a severe autosomal recessive form of neuropathy associated with either demyelinating or axonal phenotypes. Here, we demonstrate that GDAP1 has far greater expression in neurons than in myelinating Schwann cells. We investigated cell localization of GDAP1 in a human neu...
متن کاملCell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease
Mutations in the mitochondrial protein GDAP1 are the cause of Charcot-Marie-Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated with either demyelinating, axonal or intermediate phenotypes. GDAP1 is located in the outer mitochondrial membrane and it seems that may be related with the mitochondrial network dynamics. We are interested to define cell expression in the ...
متن کاملThe Gdap1 knockout mouse mechanistically links redox control to Charcot–Marie–Tooth disease
The ganglioside-induced differentiation-associated protein 1 (GDAP1) is a mitochondrial fission factor and mutations in GDAP1 cause Charcot-Marie-Tooth disease. We found that Gdap1 knockout mice (Gdap1(-/-)), mimicking genetic alterations of patients suffering from severe forms of Charcot-Marie-Tooth disease, develop an age-related, hypomyelinating peripheral neuropathy. Ablation of Gdap1 expre...
متن کاملGeneration of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.
Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. This patient did not present mutations in the PM22, MPZ or GJB genes. Human reprogramming factors OCT3/4, KLF4, SOX2 and C-MYC were delivered using a non-integrative methodology that involves the use...
متن کامل