Langping I. He

Newcastle Upon Tyne, ENG NE24HH, United Kingdom

Last Updated: 09/26/2026

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Found 70 publications

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Journal: American journal of human genetics

Published: March 27, 2026

The human HELQ helicase and XRN2 exoribonuclease cooperate in R-loop resolution.

The human HELQ helicase and XRN2 exoribonuclease cooperate in R-loop resolution.

Journal: Open biology

Published: February 18, 2025

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.

Journal: Neuromuscular disorders : NMD

Published: December 20, 2024

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Journal: medRxiv : the preprint server for health sciences

Published: October 17, 2024

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Journal: American journal of human genetics

Published: October 09, 2024

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Journal: medRxiv : the preprint server for health sciences

Published: October 07, 2024

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

Journal: Life science alliance

Published: August 23, 2024

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Journal: American journal of human genetics

Published: July 28, 2024

Retraction Note: Aurora-A is a determinant of tamoxifen sensitivity through phosphorylation of ERα in breast cancer.

Retraction Note: Aurora-A is a determinant of tamoxifen sensitivity through phosphorylation of ERα in breast cancer.

Journal: Oncogene

Published: February 24, 2024

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Journal: Molecular genetics and metabolism

Published: June 14, 2023

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Journal: European journal of human genetics : EJHG

Published: April 21, 2023

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Journal: Molecular biology reports

Published: August 20, 2020

Showing 1-12 of 70

Last Updated: 09/26/2026