List of works - Boris Rogelj

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

scientific article published on 01 October 2018

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

scientific article published on 7 March 2013

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

scientific article

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

scientific article

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain.

scientific article

Astrocytes with TDP-43 inclusions exhibit reduced noradrenergic cAMP and Ca2+ signaling and dysregulated cell metabolism

scientific article published on 07 April 2020

Biology and applications of small nucleolar RNAs.

scientific article published on 12 July 2011

Brain-specific small nucleolar RNAs.

scientific article

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

scientific article published on 13 September 2017

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration

scientific article

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

scientific article published on 27 February 2011

Clitocypin, a new type of cysteine proteinase inhibitor from fruit bodies of mushroom clitocybe nebularis.

scientific article

Cold atmospheric plasma induces stress granule formation via an eIF2α-dependent pathway

scientific article published on 15 September 2020

Cross-Regulation between TDP-43 and Paraspeckles Promotes Pluripotency-Differentiation Transition.

scientific article

Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

scientific article published on 4 April 2018

Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls

scientific article published on 4 April 2018

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

scientific article

Equistatin, a protease inhibitor from the sea anemone actinia equina, is composed of three structural and functional domains

scientific article published on 01 March 2000

Evasin-displaying lactic acid bacteria bind different chemokines and neutralize CXCL8 production in Caco-2 cells

scientific article published on 24 July 2017

Exon Specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a Familial Dysautonomia mouse model.

scientific article published on 25 April 2018

Exploiting microRNAs for cell engineering and therapy ⬇️

scientific article published on January 21, 2012

Expression changes in human skeletal muscle miRNAs following 10 days of bed rest in young healthy males.

scientific article

Expression of sea anemone equistatin in potato. Effects of plant proteases on heterologous protein production.

scientific article published in September 2003

Expression, purification, and characterization of equistatin in Pichia pastoris

scientific article published on 01 August 2000

Functional diversity of small nucleolar RNAs

scientific article published on 01 February 2020

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

scientific article published on 18 December 2014

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

scientific article published on 04 June 2019

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

scientific article

Interactome screening of C9orf72 dipeptide repeats reveals VCP sequestration and functional impairment by polyGA

scientific article published on 01 April 2022

MicroRNA in skeletal muscle development, growth, atrophy, and disease

scientific article published on 16 May 2014

Modelling FUS Mislocalisation in an In Vitro Model of Innervated Human Muscle.

scientific article published on 15 June 2017

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

scientific article (publication date: 27 February 2009)

Neuronal differentiation induces SNORD115 expression and is accompanied by post-transcriptional changes of serotonin receptor 2c mRNA.

scientific article published on 23 March 2018

Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies

scientific article published on 07 March 2019

Nuclear trafficking in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

scientific article

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms

scientific article

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

scientific article published on 01 March 2011

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport

scientific journal article

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins

scientific article published on 26 September 2016

The Effect of Different Types of Nanoparticles on FUS and TDP-43 Solubility and Subcellular Localization.

scientific article published on 25 April 2017

The Neuronal Adaptor Protein X11β Reduces Amyloid β-Protein Levels and Amyloid Plaque Formation in the Brains of Transgenic Mice

scientific article published on 03 September 2004

The X11 proteins, Abeta production and Alzheimer's disease.

scientific article

The X11/Mint family of adaptor proteins.

scientific article published on 9 June 2006

The many faces of small nucleolar RNAs.

scientific article published on 13 April 2014

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS i

scientific article published in August 2013

Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

scientific article published on 19 April 2014

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

scientific article published on 28 August 2012

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

scientific article published on 19 November 2011

List of works by Boris Rogelj

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain.

Astrocytes with TDP-43 inclusions exhibit reduced noradrenergic cAMP and Ca2+ signaling and dysregulated cell metabolism

Biology and applications of small nucleolar RNAs.

Brain-specific small nucleolar RNAs.

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

Clitocypin, a new type of cysteine proteinase inhibitor from fruit bodies of mushroom clitocybe nebularis.

Cold atmospheric plasma induces stress granule formation via an eIF2α-dependent pathway

Cross-Regulation between TDP-43 and Paraspeckles Promotes Pluripotency-Differentiation Transition.

Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

Equistatin, a protease inhibitor from the sea anemone actinia equina, is composed of three structural and functional domains

Evasin-displaying lactic acid bacteria bind different chemokines and neutralize CXCL8 production in Caco-2 cells

Exon Specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a Familial Dysautonomia mouse model.

Exploiting microRNAs for cell engineering and therapy ⬇️

Expression changes in human skeletal muscle miRNAs following 10 days of bed rest in young healthy males.

Expression of sea anemone equistatin in potato. Effects of plant proteases on heterologous protein production.

Expression, purification, and characterization of equistatin in Pichia pastoris

Functional diversity of small nucleolar RNAs

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

Interactome screening of C9orf72 dipeptide repeats reveals VCP sequestration and functional impairment by polyGA

MicroRNA in skeletal muscle development, growth, atrophy, and disease

Modelling FUS Mislocalisation in an In Vitro Model of Innervated Human Muscle.

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

Neuronal differentiation induces SNORD115 expression and is accompanied by post-transcriptional changes of serotonin receptor 2c mRNA.

Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies

Nuclear trafficking in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins

The Effect of Different Types of Nanoparticles on FUS and TDP-43 Solubility and Subcellular Localization.

The Neuronal Adaptor Protein X11β Reduces Amyloid β-Protein Levels and Amyloid Plaque Formation in the Brains of Transgenic Mice

The X11 proteins, Abeta production and Alzheimer's disease.

The X11/Mint family of adaptor proteins.

The many faces of small nucleolar RNAs.

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS i

Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS