Nicola Brunetti-Pierri

Pediatrics | Medical Genetics

2 Greenway Plz
Suite 900
Houston, TX 77046

Last Updated: 09/26/2026

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Found 217 publications

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Therapy.

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Therapy.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 16, 2026

How Much AI Can Scientific Publishing Tolerate?

How Much AI Can Scientific Publishing Tolerate?

Journal: Journal of inherited metabolic disease

Published: April 21, 2026

p62/SQSTM1-KEAP1 complex prevents clearance of ubiquitinated Z alpha-1 antitrypsin and aggravates liver proteotoxicity.

p62/SQSTM1-KEAP1 complex prevents clearance of ubiquitinated Z alpha-1 antitrypsin and aggravates liver proteotoxicity.

Journal: The Journal of biological chemistry

Published: April 09, 2026

B4GALT5 deficiency impairs glycosphingolipid biosynthesis: a new congenital disorder of glycosylation?

B4GALT5 deficiency impairs glycosphingolipid biosynthesis: a new congenital disorder of glycosylation?

Journal: Journal of lipid research

Published: April 09, 2026

Distinct mechanisms of CNV formation at the human 15q13.3 locus.

Distinct mechanisms of CNV formation at the human 15q13.3 locus.

Journal: bioRxiv : the preprint server for biology

Published: March 23, 2026

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

Journal: Journal of translational medicine

Published: March 10, 2026

Author Correction: Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.

Author Correction: Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.

Journal: Nature cell biology

Published: February 23, 2026

Rapamycin nanoparticles mitigate anti-AAV antibody formation in a mouse model of ornithine transcarbamylase deficiency.

Rapamycin nanoparticles mitigate anti-AAV antibody formation in a mouse model of ornithine transcarbamylase deficiency.

Journal: Molecular therapy. Advances

Published: November 18, 2025

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

Journal: American journal of medical genetics. Part A

Published: October 14, 2025

Loss of the Mechanistic Target of Rapamycin Complex 1 Causes a Lethal Alpha-1 Antitrypsin Deficiency-Associated Liver Disease.

Loss of the Mechanistic Target of Rapamycin Complex 1 Causes a Lethal Alpha-1 Antitrypsin Deficiency-Associated Liver Disease.

Journal: Cellular and molecular gastroenterology and hepatology

Published: August 22, 2025

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Journal: American journal of medical genetics. Part A

Published: July 26, 2025

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 14, 2025

Showing 1-12 of 217

Last Updated: 09/26/2026