Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
…, CA Ruivenkamp, MJV Hoffer, A Goldstein, DS Rajan… - Neurology, 2016 - AAN Enterprises
Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …
the NMDA receptor subunit GluN1 and to investigate their underlying functional …
Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
…, DS Rajan, AJ Barkovich, S Weckhuysen… - Annals of …, 2019 - Wiley Online Library
Objective Recent reports have described single individuals with neurodevelopmental disability
(NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We sought to assess …
(NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We sought to assess …
[HTML][HTML] Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
S Kour, DS Rajan, TR Fortuna, EN Anderson… - Nature …, 2021 - nature.com
GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN)
protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs…
protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs…
Adults with cerebral palsy require ongoing neurologic care: a systematic review
…, MC Kruer, ME Msall, G Noritz, DS Rajan… - Annals of …, 2021 - Wiley Online Library
Cerebral palsy (CP) neurologic care and research efforts typically focus on children. However,
most people with CP are adults. Adults with CP are at increased risk of new neurologic …
most people with CP are adults. Adults with CP are at increased risk of new neurologic …
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration
…, C O'Brien, D Rajasundaram, DS Rajan… - Acta …, 2023 - Springer
GEMIN5 is essential for core assembly of small nuclear Ribonucleoproteins (snRNPs), the
building blocks of spliceosome formation. Loss-of-function mutations in GEMIN5 lead to a …
building blocks of spliceosome formation. Loss-of-function mutations in GEMIN5 lead to a …
[HTML][HTML] Autosomal recessive cerebellar atrophy and spastic ataxia in patients with pathogenic biallelic variants in GEMIN5
The hereditary ataxias are a heterogenous group of disorders with an increasing number of
causative genes being described. Due to the clinical and genetic heterogeneity seen in …
causative genes being described. Due to the clinical and genetic heterogeneity seen in …
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders
…, A Fernandez-Jaen, S Kour, DS Rajan… - Life Science …, 2022 - life-science-alliance.org
Dysfunction of RNA-binding proteins is often linked to a wide range of human disease,
particularly with neurological conditions. Gemin5 is a member of the survival of the motor neurons …
particularly with neurological conditions. Gemin5 is a member of the survival of the motor neurons …
Evolving therapies in neuronopathic LSDs: opportunities and challenges
DS Rajan, ML Escolar - Metabolic Brain Disease, 2022 - Springer
Lysosomal storage disorders (LSD) are multisystemic progressive disorders caused by
genetic mutations involving lysosomal function. While LSDs are individually considered rare …
genetic mutations involving lysosomal function. While LSDs are individually considered rare …
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence
…, DS Rajan, LEW LaConte, S Srivastava - … Genetics & Genomic …, 2020 - Wiley Online Library
Background CASK is an X‐linked gene in mammals and its deletion in males is incompatible
with life. CASK heterozygous mutations in female patients associate with intellectual …
with life. CASK heterozygous mutations in female patients associate with intellectual …
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
…, M Pineda, N Rivera, TR Fortuna, DS Rajan… - European Journal of …, 2024 - nature.com
GEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate
mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No …
mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No …