Laura Caballero-Sanchez
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 8 publications
TMEM70 functions in the assembly of complexes I and V.
Journal: Biochimica et biophysica acta. Bioenergetics
Published: January 29, 2020
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
Journal: The Journal of pediatrics
Published: September 08, 2017
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.
Journal: Clinical genetics
Published: June 06, 2017
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
Journal: European journal of human genetics : EJHG
Published: April 18, 2017
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Journal: Human mutation
Published: January 18, 2017
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Journal: Molecular genetics and metabolism
Published: November 01, 2016
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Journal: American journal of human genetics
Published: March 04, 2016
Unraveling the complexity of mitochondrial complex I assembly: A dynamic process.
Journal: Biochimica et biophysica acta
Published: February 01, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026