Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions

O-GlcNAc modification of nuclear pore complexes accelerates bidirectional transport

(2021) Tae Yeon Yoo et al.   JOURNAL OF CELL BIOLOGY

Channel nuclear pore complex subunits are required for transposon silencing in Drosophila

(2021) Marzia Munafò et al.   eLife

Channel nuclear pore protein 54 directs sexual differentiation and neuronal wiring of female reproductive behaviors in Drosophila

(2021) Mohanakarthik P. Nallasivan et al.   BMC BIOLOGY

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

(2021) Audrey Schalk et al.   JOURNAL OF MEDICAL GENETICS

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

(2020) Catherine Rodger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nuclear pore complexes in development and tissue homeostasis

(2020) Valeria Guglielmi et al.   DEVELOPMENT

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

(2019) Boris Fichtman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The human protein atlas: A spatial map of the human proteome

(2017) Peter J. Thul et al.   PROTEIN SCIENCE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Ordered Regions of Channel Nucleoporins Nup62, Nup54, and Nup58 Form Dynamic Complexes in Solution

(2015) Alok Sharma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Crystal structure of the metazoan Nup62bulletNup58bulletNup54 nucleoporin complex

(2015) H. Chug et al.   SCIENCE

Architecture of the fungal nuclear pore inner ring complex

(2015) T. Stuwe et al.   SCIENCE

Surveillance of Nuclear Pore Complex Assembly by ESCRT-III/Vps4

(2014) Brant M. Webster et al.   CELL

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

The Nuclear Envelope: An Intriguing Focal Point for Neurogenetic Disease

(2014) Howard J. Worman et al.   Neurotherapeutics

Molecular Architecture of the Transport Channel of the Nuclear Pore Complex

(2011) Sozanne R. Solmaz et al.   CELL

The nuclear pore complex: bridging nuclear transport and gene regulation

(2010) Caterina Strambio-De-Castillia et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY