Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Maria Lisa Putorti
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
American Journal of Human Genetics
Genetics
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415
American Journal of Human Genetics
Genetics
Related publications
Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
American Journal of Human Genetics
Genetics
The BN51 Protein Is a Polymerase (Pol)-Specific Subunit of RNA Pol III Which Reveals a Link Between Pol III Transcription and Pre-rRNA Processing.
Molecular and Cellular Biology
Cell Biology
Molecular Biology
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
American Journal of Human Genetics
Genetics
Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
Ty1 Integrase Interacts With RNA Polymerase III-specific Subcomplexes to Promote Insertion of Ty1 Elements Upstream of Polymerase (Pol) III-transcribed Genes
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
A Minimal RNA Polymerase III Transcription System
EMBO Journal
Immunology
Molecular Biology
Biochemistry
Microbiology
Neuroscience
Medicine
Genetics
