List of works - Roman Chrast

A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat

scientific article

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

scientific article published on 18 August 2015

A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy

scientific article

A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells

scientific article published on 21 May 2014

Acid-sensing ion channel 1a drives AMPA receptor plasticity following ischaemia and acidosis in hippocampal CA1 neurons

scientific article

Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways

scientific article published on 15 February 2012

Akt Regulates Axon Wrapping and Myelin Sheath Thickness in the PNS

scientific article published on April 2016

Altered distribution of juxtaparanodal kv1.2 subunits mediates peripheral nerve hyperexcitability in type 2 diabetes mellitus.

scientific article published in May 2012

Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy

scientific article published on 18 January 2019

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

scientific article

Cell autonomous lipin 1 function is essential for development and maintenance of white and brown adipose tissue

scientific article

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

scientific article published on 01 May 2019

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

scientific article published on 5 October 2017

Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping

scientific article published in August 1996

Complement factors in adult peripheral nerve: a potential role in energy metabolism

scientific article published on July 2004

Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

article

Disrupted function of lactate transporter MCT1, but not MCT4, in Schwann cells affects the maintenance of motor end-plate innervation

scientific article published on 20 July 2020

Distribution of monocarboxylate transporters in the peripheral nervous system suggests putative roles in lactate shuttling and myelination.

scientific article

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.

scientific article published on 11 February 2015

Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

scientific article

Epineurial adipocytes are dispensable for Schwann cell myelination

scientific article published on 10 October 2012

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

scientific article published on 01 August 2015

Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.

scientific article published in May 2010

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

article

Generation and phenotypic analysis of protein S-deficient mice.

scientific article

Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).

scientific article

Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice

scientific article

Hepatic-specific lipin-1 deficiency exacerbates experimental alcohol-induced steatohepatitis in mice

scientific article published on 17 October 2013

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath

scientific article published on 29 May 2015

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

scientific article

Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy

scientific article

Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

scientific article

Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy

scientific article published on 12 November 2018

Lipin1 is required for skeletal muscle development by regulating MEF2c and MyoD expression

scientific article published on 26 December 2018

Liver-specific loss of lipin-1-mediated phosphatidic acid phosphatase activity does not mitigate intrahepatic TG accumulation in mice

scientific article

Local regulation of fat metabolism in peripheral nerves

scientific article

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

scientific article

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

scientific article

Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice

scientific article published on 20 July 2018

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

Macrophage-Associated Lipin-1 Enzymatic Activity Contributes to Modified Low-Density Lipoprotein-Induced Proinflammatory Signaling and Atherosclerosis

scientific article published on 7 December 2017

Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21

scientific article

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

article

Mice with an adipocyte-specific lipin 1 separation-of-function allele reveal unexpected roles for phosphatidic acid in metabolic regulation

scientific article

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

scientific article

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

scientific article

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

scientific article

Myeloid Cell-Specific Lipin-1 Deficiency Stimulates Endocrine Adiponectin-FGF15 Axis and Ameliorates Ethanol-Induced Liver Injury in Mice

scientific article published on 26 September 2016

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C ⬇️

scientific article published on 17 December 2018

Neuronal activity in the hub of extrasynaptic Schwann cell-axon interactions

scientific article

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

scientific article

Novel pathogenic pathways in diabetic neuropathy

scientific article published on 29 May 2013

Oligodendroglial myelination requires astrocyte-derived lipids

scientific article

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.

scientific article published on 15 February 2018

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

scientific article published on 17 June 2013

PPARgamma in placental angiogenesis

scientific article published on September 2010

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

scientific article published on 01 March 2019

Phosphatidic acid mediates demyelination in Lpin1 mutant mice

scientific article published on June 2008

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

scientific journal article

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region

article

Reply: Is SIGMAR1 a confirmed FTD/MND gene?

scientific article published on 18 June 2015

SCAP is required for timely and proper myelin membrane synthesis

scientific article

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

scientific article

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

scientific article

SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status.

scientific article published on May 2007

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

scientific journal article

Single-minded and Down syndrome?

scientific article

Sox4 participates in the modulation of Schwann cell myelination

scientific article published on 19 May 2015

The Role of Peripheral Myelin Protein 2 in Remyelination

scientific article published on 26 April 2017

The glucocorticoid-induced leucine zipper (gilz/Tsc22d3-2) gene locus plays a crucial role in male fertility

scientific article

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

scientific article

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

List of works by Roman Chrast

A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy

A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells

Acid-sensing ion channel 1a drives AMPA receptor plasticity following ischaemia and acidosis in hippocampal CA1 neurons

Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways

Akt Regulates Axon Wrapping and Myelin Sheath Thickness in the PNS

Altered distribution of juxtaparanodal kv1.2 subunits mediates peripheral nerve hyperexcitability in type 2 diabetes mellitus.

Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

Cell autonomous lipin 1 function is essential for development and maintenance of white and brown adipose tissue

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping

Complement factors in adult peripheral nerve: a potential role in energy metabolism

Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

Disrupted function of lactate transporter MCT1, but not MCT4, in Schwann cells affects the maintenance of motor end-plate innervation

Distribution of monocarboxylate transporters in the peripheral nervous system suggests putative roles in lactate shuttling and myelination.

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.

Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

Epineurial adipocytes are dispensable for Schwann cell myelination

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

Generation and phenotypic analysis of protein S-deficient mice.

Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).

Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice

Hepatic-specific lipin-1 deficiency exacerbates experimental alcohol-induced steatohepatitis in mice

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy

Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy

Lipin1 is required for skeletal muscle development by regulating MEF2c and MyoD expression

Liver-specific loss of lipin-1-mediated phosphatidic acid phosphatase activity does not mitigate intrahepatic TG accumulation in mice

Local regulation of fat metabolism in peripheral nerves

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Macrophage-Associated Lipin-1 Enzymatic Activity Contributes to Modified Low-Density Lipoprotein-Induced Proinflammatory Signaling and Atherosclerosis

Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

Mice with an adipocyte-specific lipin 1 separation-of-function allele reveal unexpected roles for phosphatidic acid in metabolic regulation

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

Myeloid Cell-Specific Lipin-1 Deficiency Stimulates Endocrine Adiponectin-FGF15 Axis and Ameliorates Ethanol-Induced Liver Injury in Mice

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C ⬇️

Neuronal activity in the hub of extrasynaptic Schwann cell-axon interactions

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

Novel pathogenic pathways in diabetic neuropathy

Oligodendroglial myelination requires astrocyte-derived lipids

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

PPARgamma in placental angiogenesis

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Phosphatidic acid mediates demyelination in Lpin1 mutant mice

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region

Reply: Is SIGMAR1 a confirmed FTD/MND gene?

SCAP is required for timely and proper myelin membrane synthesis

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status.

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Single-minded and Down syndrome?

Sox4 participates in the modulation of Schwann cell myelination

The Role of Peripheral Myelin Protein 2 in Remyelination

The glucocorticoid-induced leucine zipper (gilz/Tsc22d3-2) gene locus plays a crucial role in male fertility

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

Transcriptional regulator PRDM12 is essential for human pain perception