Jouni Vesa

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Jouni Vesa, Elina Hellsten, Linda A. Verkruyse et al. · Nature · 1995 · 737 citations

Developmental Biology, Molecular Neuroscience, Medicine +3

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

Emilie Tresse, Florian A. Salomons, Jouni Vesa et al. · Autophagy · 2010 · 436 citations · Full text

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Ilona Visapää, Vineta Fellman, Jouni Vesa et al. · The American Journal of Human Genetics · 2002 · 293 citations · Full text

Mendelian Disorder, Genetic Disorder, Iron Metabolism +8

Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3

Jouni Vesa, Mark H. Chin, Kathrin Oelgeschläger et al. · Molecular Biology of the Cell · 2002 · 124 citations · Full text

Proteinlipid Interaction, Tumor Innervation, Molecular Level +18

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

Mallikarjun Badadani, Angèle Nalbandian, Giles D. Watts et al. · PLoS ONE · 2010 · 122 citations · Full text