SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Daniele Ghezzi, P Goffrini, Graziella Uziel, +10

Nature Genetics

Sdh-defective Infantile LeukoencephalopathyDisease MechanismGenetic DisorderImmune Cell DevelopmentImmunology +8

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack, +24

The American Journal of Human Genetics

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Valeria Massa, Erika Fernández‐Vizarra, Saad AlShahwan, +7

The American Journal of Human Genetics

Severe Infantile EncephalomyopathyBiochemistryNatural SciencesHeme DegradationInherited Metabolic Disease +10

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini, +7

Human Molecular Genetics

Recessive germline <i>SDHA</i> and <i>SDHB</i> mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Charlotte L. Alston, James Davison, Francesca Meloni, +10

Journal of Medical Genetics

Regulation of primary carbon metabolism in Kluyveromyces lactis

Karin D. Breunig, Monique Bolotin‐Fukuhara, Michele M. Bianchi, +11

Enzyme and Microbial Technology

BiosynthesisBiological Carbon FixationBiochemistryBioenergeticsMicrobial Physiology +5

Behaviour of Saccharomyces cerevisiae wine strains during adaptation to unfavourable conditions of fermentation on synthetic medium: Cell lipid composition, membrane integrity, viability and fermentative activity

Ilaria Mannazzu, Daniele Angelozzi, Simona Belviso, +6

International Journal of Food Microbiology

EngineeringFood FermentationBiochemistryBiotechnologySynthetic Biology +6

Glucose transport in the yeastKluyveromyces lactis

Micheline Wésolowski‐Louvel, P Goffrini, Iliana Ferrero, +1

Molecular and General Genetics MGG

Glucose TransportBiochemistryFungal Cell BiologyBioenergeticsYeast +3

<i>RAG1</i> and <i>RAG2</i>: Nuclear genes involved in the dependence/independence on mitochondrial respiratory function for growth on sugars

P Goffrini, Angela Algeri, Claudia Donnini, +2

Yeast

Killer DNA Plasmids of the Yeast Kluyveromyces lactis

Micheline W�solowski, Angela Algeri, P Goffrini, +1

Current Genetics

BacteriologyKiller Dna PlasmidsYeastMicrobiologyMedicine +1