Balint B et al. Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. Eur J Neurol. 2019;26(9):1240-1243. PMID: 30897263.
Calvo SE et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010;42(10):851-8. PMID: 20818383.
Cheng C et al. Early embryonic lethality in complex I associated L104P Nubpl mutant mice. Orphanet J of Rare Diseases. 2022 (in press).
Eis PS et al. Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency. Front Neurol. 2020;11:555961. PMID: 33224084.
Friederich MW et al. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab. 2020;129(3):236-242. PMID: 31917109.
Kanabus M et al. Development of pharmacological strategies for mitochondrial disorders. Br J Pharmacol. 2014; 171(8):1798-817. PMID: 24116962.
Kevalem SH et al. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. Neurology. 2013;80(17):1577-83. PMID: 23553477.
Kimonis V et al. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. J Med Genet. 2021;58(5):314-325. PMID: 32518176.
Maclean AE et al. Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. Hum Mol Genet. 2018;27(21):3697-3709. PMID: 29982452.
Parikh S et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17(9):689-701. PMID: 25503498.
Parikh S et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017;19(12):10.1038/gim.2017.107. PMID: 28749475.
Protasoni P et al. Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. Mol Genet Metab. 2020;129(1):26-34. PMID: 31787496.
Rahman S. et al. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2015 Oct 1 [updated 2020 Jul 16]. PMID: 26425749.
Roosendaal SD et al. Imaging Patterns Characterizing Mitochondrial Leukodystrophies. AJNR Am J Neuroradiol. 2021;42(7):1334-1340. PMID: 34255734.
Tenisch EV et al. Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations. Neurology 2012;79(4):391. PMID: 22826544.
Thorburn DR et al. Mitochondrial DNA-Associated Leigh Syndrome and NARP. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2003 Oct 30 [updated 2017 Sep 28]. PMID: 20301352.
Tucker EJ et al. Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat. 2012;33(2):411-8. PMID: 22072591.
Wydro MM and Balk J. Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model. Dis Model Mech. 2013;6(5):1279-84. PMID: 23828044.