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Article

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

Molecular genetics and metabolism - 1 Jan 2020

Protasoni Margherita, Bruno Claudio, Donati Maria Alice, Mohamoud Khadra, Severino Mariasavina, Allegri Anna, Robinson Alan J, Reyes Aurelio, Zeviani Massimo, Garone Caterina

Abstract excerpt

NUBPL (Nucleotide-binding protein like) protein encodes a member of the Mrp/NBP35 ATP-binding proteins family, deemed to be involved in mammalian complex I (CI) assembly process. Exome sequencing of a patient presenting with infantile-onset hepatopathy, renal tubular acidosis, developmental delay, short stature, leukoencephalopathy with minimal cerebellar involvement and multiple OXPHOS deficiencies revealed the...

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PMID: 31787496
DOI: 10.1016/j.ymgme.2019.11.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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