Reza Maroofian
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View article: Bi-allelic <i>ATG12</i> variants impair autophagy and cause a neurodevelopmental disorder
Bi-allelic <i>ATG12</i> variants impair autophagy and cause a neurodevelopmental disorder Open
Macroautophagy/autophagy is an essential developmental and homeostatic process, defined by the endolysosomal degradation of intracellular components and pathogens. Dysfunctional autophagy is implicated in complex human disease, yet reports…
View article: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function Open
View article: <scp><i>RRP12</i></scp> Variants Are Associated With Autosomal Recessive Brain Calcifications
<span><i>RRP12</i></span> Variants Are Associated With Autosomal Recessive Brain Calcifications Open
Background Primary brain calcifications are observed in several inherited diseases due to different pathogenic mechanisms, including the disruption of the neurovascular unit, mitochondrial dysfunction, and impaired nucleic acid metabolism.…
View article: Mutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Mutations in the Key Autophagy Tethering Factor <span>EPG5</span> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism Open
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating v…
View article: Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements Open
These findings expand the phenotypic spectrum of GOT2 deficiency, establish it as a cause of developmental epileptic encephalopathy, and propose novel biomarkers for diagnosis and treatment.
View article: Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency Open
Biallelic NDUFA9 variants have hitherto been associated with disease in four individuals. Hence, clinicogenetic features of NDUFA9-related disorder remain largely unexplored. To delineate the pheno-genotypic spectrum of NDUFA9-related diso…
View article: Recessive Loss of <scp> <i>PI4K2A</i> </scp> Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia
Recessive Loss of <span> <i>PI4K2A</i> </span> Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia Open
Background Biallelic loss‐of‐function variants in PI4K2A have been associated with a neurodevelopmental disorder characterized by seizures and movement disorders, including orofacial dyskinesia. However, only 4 cases have been reported. Or…
View article: A programmed decline in ribosome levels governs human early neurodevelopment
A programmed decline in ribosome levels governs human early neurodevelopment Open
Many neurodevelopmental defects are linked to genes involved in housekeeping functions, such as those encoding ribosome biogenesis factors. How reductions in ribosome biogenesis can result in tissue- and developmental-specific defects rema…
View article: BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy Open
BLOC1S1 encodes a subunit shared by the BLOC-1 and BORC hetero-octameric complexes that regulate various endolysosomal processes. Here, we report the identification of seven distinct variants in BLOC1S1 in eleven individuals from seven ind…
View article: Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series Open
National Institute for Health and Care Research, LifeArc, and Wellcome Trust.
View article: Deciphering <i>DST</i>-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Deciphering <i>DST</i>-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy Open
Dystonin (DST) encodes three major isoforms, DST-a, DST-b, and DST-e. Biallelic pathogenic variants in DST have previously been associated with two allelic monogenic disorders: Hereditary Sensory and Autonomic Neuropathy type VI (caused by…
View article: Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in <scp><i>PDE1B</i></scp> Encoding Phosphodiesterase <scp>1B</scp>
Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in <span><i>PDE1B</i></span> Encoding Phosphodiesterase <span>1B</span> Open
Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. Wh…
View article: Biallelic <i>LGI1</i> and <i>ADAM23</i> variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway
Biallelic <i>LGI1</i> and <i>ADAM23</i> variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway Open
Monoallelic pathogenic variants in LGI1 cause autosomal dominant epilepsy with auditory features with onset in childhood/adolescence. LGI1 is a secreted neuronal protein, functions as a ligand for ADAM22/23, and regulates excitatory synapt…
View article: Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neurons
Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neurons Open
Neurons develop diverse synapses that vary in content, morphology, and size. Although transcriptional regulators of neurotransmitter identity are known, it remains unclear how synaptic features are patterned among neuronal subtypes. In the…
View article: Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafish
Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafish Open
Defects in DNA single-strand break repair are associated with neurodevelopmental and neurodegenerative disorders. One such disorder is that resulting from mutations in XRCC1 , a scaffold protein that plays a central role in DNA single-stra…
View article: Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin Open
View article: SLK is mutated in individuals with a neurodevelopmental disorder
SLK is mutated in individuals with a neurodevelopmental disorder Open
View article: Pathogenic variants in<i>BORCS5</i>Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
Pathogenic variants in<i>BORCS5</i>Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction Open
BORCS5 encodes a subunit of the BLOC-one-related complex (BORC), which is known to mediate the kinesin-dependent anterograde movement of lysosomes. Using whole-exome sequencing, we identified 12 cases from seven families carrying bi-alleli…
View article: Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort Open
An integrated approach combining whole exome sequencing (WES) and autozygosity mapping was used to molecularly diagnose inherited retinal disease (IRD) in 192 unrelated Iranian families, 76.1% of which originate from a consanguineous backg…
View article: Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Open
View article: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS Open
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aid…
View article: Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs Open
The tRNA methyltransferase 1 (TRMT1) enzyme catalyzes the N2,N2-dimethylguanosine (m2,2G) modification in tRNAs. Intriguingly, vertebrates encode an additional tRNA methyltransferase 1-like (TRMT1L) paralog. Here, we use a comprehensive tR…
View article: Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases Open
Copper is indispensable for various metabolic processes, notably mitochondrial respiration. In humans, copper homeostasis hinges on transporters such as copper transporter 1 (CTR1), encoded by the SLC31A1 gene. Recently, bi-allelic mutatio…
View article: Genetic Risk of Axonal Neuropathy Following Infection
Genetic Risk of Axonal Neuropathy Following Infection Open
View article: Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish
Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish Open
RNA polymerase III transcribes essential non-coding RNAs, a process regulated by transcription factors TFIIIB and TFIIIC. Although germline variants in TFIIIC subunit genes have been described in a few patients with neurodevelopmental diso…
View article: Clinical and genetic characterization of a progressive <i>RBL2</i>-associated neurodevelopmental disorder
Clinical and genetic characterization of a progressive <i>RBL2</i>-associated neurodevelopmental disorder Open
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. H…
View article: Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment Open
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individual…
View article: Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism Open
Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and …
View article: Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability Open
These findings confirm that GTF3C3 variants result in an autosomal recessive form of syndromic intellectual disability.
View article: <i>Parp1</i>deletion rescues cerebellar hypotrophy in<i>xrcc1</i>mutant zebrafish
<i>Parp1</i>deletion rescues cerebellar hypotrophy in<i>xrcc1</i>mutant zebrafish Open
Defects in DNA single-strand break repair are associated with neurodevelopmental and neurodegenerative disorders. One such disorder is that resulting from mutations in XRCC1 , a scaffold protein that plays a central role in DNA single-stra…