Marco Ferniani

First author of the study showing mTORC1 hyperactivation, not TFEB/TFE3 activity itself, is the primary driver of kidney cystogenesis and tumorigenesis in mouse models of Birt-Hogg-Dubé and Tuberous Sclerosis

Department of Molecular and Human Genetics, Baylor College of Medicine · Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (Ballabio lab)

Marco Ferniani is first author of FER2026, from Andrea Ballabio's lab, which genetically uncoupled mTORC1 activity from TFEB/TFE3 activity in kidney-specific mouse models (Depdc5-KO, RagC-KO, Flcn/RagC double-KO) to ask which one actually drives the cystogenesis and tumorigenesis seen in Birt-Hogg-Dubé and Tuberous Sclerosis Complex. The answer: mTORC1 hyperactivation is the main driver, with constitutive TFEB/TFE3 activity accelerating disease on top of it.

Added to the Atlas 2026-10-03; profile is a stub pending a second corpus study (no portrait yet).

Milestones in the Atlas

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Co-authors in the Atlas

People with a profile here who share at least one study with Marco Ferniani.

• Alessia Calcagnì TIGEM researcher on the TFEB/TFE3 side of mTORC1 signalling; co-author on the lysosomal stress route to TFEB activation and on mouse models separating mTORC1 from TFEB/TFE3 in kidney cysts and tumours.
• Andrea Ballabio Discovered that the transcription factor TFEB is a master switch for building lysosomes and for autophagy. His lab was one of the groups that showed in 2012 that mTORC1 keeps TFEB out of the nucleus from the lysosome surface, and later (2020) that constitutive TFEB activation drives the kidney disease of Birt-Hogg-Dubé syndrome

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