Search

Your search keyword '"Ruzzenente B"' showing total 8 results
Start Over Author "Ruzzenente B" Database OAIster
8 results on '"Ruzzenente B"'

1. Biallelic IARS2 mutations presenting as sideroblastic anemia

Author

Barcia, G, Pandithan, D, Ruzzenente, B, Assouline, Z, Pennisi, A, Besmond, C, Roux, C-J, Boddaert, N, Desguerre, I, Thorburn, DR, Bratkovic, D, Munnich, A, Bonnefont, J-P, Rotig, A, Steffann, J, Barcia, G, Pandithan, D, Ruzzenente, B, Assouline, Z, Pennisi, A, Besmond, C, Roux, C-J, Boddaert, N, Desguerre, I, Thorburn, DR, Bratkovic, D, Munnich, A, Bonnefont, J-P, Rotig, A, and Steffann, J

Abstract

Not available.

Published
2021

2. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Author

Gardeitchik, T., Mohamed, M., Ruzzenente, B., Karall, D., Guerrero Castillo, S., Dalloyaux, D., Brand, M.A. van den, Kraaij, S.A.W. van, Hoischen, A., Rodenburg, R.J.T., Brandt, U., Brouwer, A.P.M. de, Nijtmans, L.G.J., Wevers, R.A., Metodiev, M.D., Morava, E., Gardeitchik, T., Mohamed, M., Ruzzenente, B., Karall, D., Guerrero Castillo, S., Dalloyaux, D., Brand, M.A. van den, Kraaij, S.A.W. van, Hoischen, A., Rodenburg, R.J.T., Brandt, U., Brouwer, A.P.M. de, Nijtmans, L.G.J., Wevers, R.A., Metodiev, M.D., and Morava, E.

Abstract

Contains fulltext : 190921.pdf (publisher's version ) (Closed access)

Published
2018

3. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Author

Gardeitchik, T., Mohamed, M., Ruzzenente, B., Karall, D., Guerrero Castillo, S., Dalloyaux, D., Brand, M.A. van den, Kraaij, S.A.W. van, Hoischen, A., Rodenburg, R.J.T., Brandt, U., Brouwer, A.P.M. de, Nijtmans, L.G.J., Wevers, R.A., Metodiev, M.D., Morava, E., Gardeitchik, T., Mohamed, M., Ruzzenente, B., Karall, D., Guerrero Castillo, S., Dalloyaux, D., Brand, M.A. van den, Kraaij, S.A.W. van, Hoischen, A., Rodenburg, R.J.T., Brandt, U., Brouwer, A.P.M. de, Nijtmans, L.G.J., Wevers, R.A., Metodiev, M.D., and Morava, E.

Abstract

Contains fulltext : 190921.pdf (publisher's version ) (Closed access)

Published
2018

4. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Author

Gardeitchik, T., Mohamed, M., Ruzzenente, B., Karall, D., Guerrero Castillo, S., Dalloyaux, D., Brand, M.A. van den, Kraaij, S.A.W. van, Hoischen, A., Rodenburg, R.J.T., Brandt, U., Brouwer, A.P.M. de, Nijtmans, L.G.J., Wevers, R.A., Metodiev, M.D., Morava, E., Gardeitchik, T., Mohamed, M., Ruzzenente, B., Karall, D., Guerrero Castillo, S., Dalloyaux, D., Brand, M.A. van den, Kraaij, S.A.W. van, Hoischen, A., Rodenburg, R.J.T., Brandt, U., Brouwer, A.P.M. de, Nijtmans, L.G.J., Wevers, R.A., Metodiev, M.D., and Morava, E.

Abstract

Contains fulltext : 190921.pdf (publisher's version ) (Closed access)

Published
2018

5. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Author

Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M.D., Rio, M. del, Funalot, B., Brand, M.A.M. van den, Guerrero-Castillo, S., Molenaar, J.P.F., Koolen, D.A., Brandt, U., Rodenburg, R.J.T., Nijtmans, L.G.J., Rotig, A., Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M.D., Rio, M. del, Funalot, B., Brand, M.A.M. van den, Guerrero-Castillo, S., Molenaar, J.P.F., Koolen, D.A., Brandt, U., Rodenburg, R.J.T., Nijtmans, L.G.J., and Rotig, A.

Abstract

Contains fulltext : 165717.pdf (publisher's version ) (Closed access), Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with relatively mild clinical symptoms, including isolated, progressive exercise-induced myalgia and exercise intolerance but with normal later development. Exome sequencing and targeted exome sequencing revealed compound-heterozygous mutations in TMEM126B, encoding a complex I assembly factor. Further biochemical analysis of subject fibroblasts revealed a severe complex I deficiency caused by defective assembly. Lentiviral complementation with the wild-type cDNA restored the complex I deficiency, demonstrating the pathogenic nature of these mutations. Further complexome analysis of one subject indicated that the complex I assembly defect occurred during assembly of its membrane module. Our results show that TMEM126B defects can lead to complex I deficiencies and, interestingly, that symptoms can occur only after exercise.

Published
2016

6. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Author

Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M.D., Rio, M. del, Funalot, B., Brand, M.A.M. van den, Guerrero-Castillo, S., Molenaar, J.P.F., Koolen, D.A., Brandt, U., Rodenburg, R.J.T., Nijtmans, L.G.J., Rotig, A., Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M.D., Rio, M. del, Funalot, B., Brand, M.A.M. van den, Guerrero-Castillo, S., Molenaar, J.P.F., Koolen, D.A., Brandt, U., Rodenburg, R.J.T., Nijtmans, L.G.J., and Rotig, A.

Abstract

Contains fulltext : 165717.pdf (publisher's version ) (Closed access), Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with relatively mild clinical symptoms, including isolated, progressive exercise-induced myalgia and exercise intolerance but with normal later development. Exome sequencing and targeted exome sequencing revealed compound-heterozygous mutations in TMEM126B, encoding a complex I assembly factor. Further biochemical analysis of subject fibroblasts revealed a severe complex I deficiency caused by defective assembly. Lentiviral complementation with the wild-type cDNA restored the complex I deficiency, demonstrating the pathogenic nature of these mutations. Further complexome analysis of one subject indicated that the complex I assembly defect occurred during assembly of its membrane module. Our results show that TMEM126B defects can lead to complex I deficiencies and, interestingly, that symptoms can occur only after exercise.

Published
2016

7. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Author

Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M.D., Rio, M. del, Funalot, B., Brand, M.A.M. van den, Guerrero-Castillo, S., Molenaar, J.P.F., Koolen, D.A., Brandt, U., Rodenburg, R.J.T., Nijtmans, L.G.J., Rotig, A., Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M.D., Rio, M. del, Funalot, B., Brand, M.A.M. van den, Guerrero-Castillo, S., Molenaar, J.P.F., Koolen, D.A., Brandt, U., Rodenburg, R.J.T., Nijtmans, L.G.J., and Rotig, A.

Abstract

Contains fulltext : 165717.pdf (publisher's version ) (Closed access), Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with relatively mild clinical symptoms, including isolated, progressive exercise-induced myalgia and exercise intolerance but with normal later development. Exome sequencing and targeted exome sequencing revealed compound-heterozygous mutations in TMEM126B, encoding a complex I assembly factor. Further biochemical analysis of subject fibroblasts revealed a severe complex I deficiency caused by defective assembly. Lentiviral complementation with the wild-type cDNA restored the complex I deficiency, demonstrating the pathogenic nature of these mutations. Further complexome analysis of one subject indicated that the complex I assembly defect occurred during assembly of its membrane module. Our results show that TMEM126B defects can lead to complex I deficiencies and, interestingly, that symptoms can occur only after exercise.

Published
2016

Catalog

Books, media, physical & digital resources
See catalog results