Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

(2015) Brian N. Harding et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

(2014) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Vestibular and cerebellar contribution to gaze optimality

(2014) Murat Sağlam et al.   BRAIN

mTOR inhibitors and renal allograft: Yin and Yang

(2014) Gianluigi Zaza et al.   JOURNAL OF NEPHROLOGY

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

(2014) C. E. Sadowski et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

WDSPdb: a database for WD40-repeat proteins

(2014) Yang Wang et al.   NUCLEIC ACIDS RESEARCH

Cognitive Phenotype in Ataxia-Telangiectasia

(2014) Franziska Hoche et al.   PEDIATRIC NEUROLOGY

Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size

(2014) Jian-Fu Chen et al.   Nature Communications

Retrograde transneuronal degeneration in the retina and lateral geniculate nucleus of the V1-lesioned marmoset monkey

(2013) A. Hendrickson et al.   Brain Structure & Function

The Contributions of the Cerebellum in Sensorimotor Control: What Are the Prevailing Opinions Which Will Guide Forthcoming Studies?

(2013) Mario Manto et al.   CEREBELLUM

The midbody ring scaffolds the abscission machinery in the absence of midbody microtubules

(2013) Rebecca A. Green et al.   JOURNAL OF CELL BIOLOGY

Inactivation of mTORC1 in the Developing Brain Causes Microcephaly and Affects Gliogenesis

(2013) D. Cloetta et al.   JOURNAL OF NEUROSCIENCE

The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair

(2013) Masafumi Saijo   MECHANISMS OF AGEING AND DEVELOPMENT

Focal malformations of cortical development: New vistas for molecular pathogenesis

(2013) K.-C. Lim et al.   NEUROSCIENCE

Protective Effects of the mTOR Inhibitor Everolimus on Cytoskeletal Injury in Human Podocytes Are Mediated by RhoA Signaling

(2013) Stefanie Jeruschke et al.   PLoS One

Cellular Effects of Everolimus and Sirolimus on Podocytes

(2013) Sandra Müller-Krebs et al.   PLoS One

Stimulation of de Novo Pyrimidine Synthesis by Growth Signaling Through mTOR and S6K1

(2013) I. Ben-Sahra et al.   SCIENCE

Quantitative Phosphoproteomics Reveal mTORC1 Activates de Novo Pyrimidine Synthesis

(2013) A. M. Robitaille et al.   SCIENCE

Knowing when to cut and run: mechanisms that control cytokinetic abscission

(2013) Monica Agromayor et al.   TRENDS IN CELL BIOLOGY

Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome

(2013) Sandra Baez et al.   Frontiers in Aging Neuroscience

Podocyte Biology in Segmental Sclerosis and Progressive Glomerular Injury

(2012) Laura Barisoni   ADVANCES IN CHRONIC KIDNEY DISEASE

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MTOR regulates autophagic flux in the glomerulus

(2012) Davide P. Cinà et al.   Autophagy

Effectiveness of a combination therapy using calcineurin inhibitor and mTOR inhibitor in preventing allograft rejection and post-transplantation renal cancer progression

(2012) Aninda Basu et al.   CANCER LETTERS

Fetal Brain mTOR Signaling Activation in Tuberous Sclerosis Complex

(2012) Victoria Tsai et al.   CEREBRAL CORTEX

Pathobiology of focal segmental glomerulosclerosis

(2012) Vivette D. D’Agati   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

Midbody assembly and its regulation during cytokinesis

(2012) Chi-Kuo Hu et al.   MOLECULAR BIOLOGY OF THE CELL

Galloway-Mowat Syndrome: Neurologic Features in Two Sibling Pairs

(2012) Jeffrey J. Ekstrand et al.   PEDIATRIC NEUROLOGY

Embodied cognitive evolution and the cerebellum

(2012) R. A. Barton   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

Anterograde Degeneration along the Visual Pathway after Optic Nerve Injury

(2012) Yuyi You et al.   PLoS One

Genetic causes of microcephaly and lessons for neuronal development

(2012) Edward C. Gilmore et al.   Wiley Interdisciplinary Reviews-Developmental Biology

The role of Hsp90 in protein complex assembly

(2011) Taras Makhnevych et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

(2011) S. Gulsuner et al.   GENOME RESEARCH

Neuropathological Homology in True Galloway-Mowat Syndrome

(2011) Julia Keith et al.   JOURNAL OF CHILD NEUROLOGY

Role of mTOR in podocyte function and diabetic nephropathy in humans and mice

(2011) Markus Gödel et al.   JOURNAL OF CLINICAL INVESTIGATION

Focal Segmental Glomerulosclerosis

(2011) Vivette D. D'Agati et al.   NEW ENGLAND JOURNAL OF MEDICINE

Calcineurin Inhibitor-Induced and Ras-Mediated Overexpression of VEGF in Renal Cancer Cells Involves mTOR through the Regulation of PRAS40

(2011) Aninda Basu et al.   PLoS One

Visuomotor Cerebellum in Human and Nonhuman Primates

(2010) Jan Voogd et al.   CEREBELLUM

Acetylcholine-dopamine balance hypothesis in the striatum: An update

(2010) Toshihiko Aosaki et al.   Geriatrics & Gerontology International

STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

(2010) Ksenia A. Orlova et al.   JOURNAL OF CLINICAL INVESTIGATION

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

WDR62 is associated with the spindle pole and is mutated in human microcephaly

(2010) Adeline K Nicholas et al.   NATURE GENETICS

HSP90 at the hub of protein homeostasis: emerging mechanistic insights

(2010) Mikko Taipale et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Galloway–Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature

(2010) Marianna Pezzella et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The tuberous sclerosis complex

(2009) Ksenia A. Orlova et al.   Annals of the New York Academy of Sciences

Cerebellum of the Premature Infant: Rapidly Developing, Vulnerable, Clinically Important

(2009) Joseph J. Volpe   JOURNAL OF CHILD NEUROLOGY

Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism

(2009) Helen L. Storr et al.   MOLECULAR ENDOCRINOLOGY