List of works - Istvan Katona

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.

scientific article published on 05 August 2017

ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology

scientific article published on 28 October 2016

Accumulation of STIM1 is associated with the degenerative muscle fibre phenotype in ALS and other neurogenic atrophies

scientific article published in April 2015

Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis

scientific article

Bortezomib-induced severe autonomic neuropathy

scientific article published on 25 April 2012

Characteristic clinical and ultrastructural findings in nesprinopathies

scientific article published on 29 December 2018

Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.

scientific article published in May 2016

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

scientific article

Conduction block in PMP22 deficiency.

scientific article published on January 2010

Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.

scientific article

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.

scientific article published in December 2012

Differential Glial Chitotriosidase 1 and Chitinase 3-like Protein 1 Expression in the Human Primary Visual Cortex and Cerebellum after Global Hypoxia-Ischemia

scientific article published in December 2022

Diseases of the peripheral nerves.

scientific article published on January 2017

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.

scientific article

Endothelial damage, vascular bagging and remodeling of the microvascular bed in human microangiopathy with deep white matter lesions

scientific article published on 23 November 2018

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

scientific article

Glycogenosome accumulation in the arrector pili muscle in Pompe disease

scientific article published on 05 February 2014

Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances

scientific article

Macrophage Depletion Ameliorates Peripheral Neuropathy in Aging Mice.

scientific article

Monitoring α-synuclein multimerization in vivo

scientific article published on 25 September 2018

Myelinating Glia-Specific Deletion of Fbxo7 in Mice Triggers Axonal Degeneration in the Central Nervous System Together with Peripheral Neuropathy

scientific article published on 13 May 2019

Neuropathy in a human without the PMP22 gene.

scientific article published on June 2011

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

scientific article

PMP22 expression in dermal nerve myelin from patients with CMT1A.

scientific article published on 15 May 2009

Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation

scientific article published on 10 May 2021

Reduced intraepidermal nerve fiber density in patients with REM sleep behavior disorder

scientific article

Regulation of endoplasmic reticulum turnover by selective autophagy

scientific article

Role of endogenous cannabinoids in synaptic signaling

scientific article (publication date: July 2003)

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.

scientific article

Small-fiber neuropathy in patients with ALS

scientific article published on 01 June 2011

Small-fiber neuropathy with cardiac denervation in postural tachycardia syndrome

scientific article published on 29 August 2014

Spinal cord organotypic slice cultures for the study of regenerating motor axon interactions with 3D scaffolds.

scientific article published on 22 February 2014

Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

scientific article published in Nature Communications

The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.

scientific article published on 16 June 2017

Towards a functional pathology of hereditary neuropathies

scientific article published on 28 November 2016

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

List of works by Istvan Katona

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.

ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology

Accumulation of STIM1 is associated with the degenerative muscle fibre phenotype in ALS and other neurogenic atrophies

Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis

Bortezomib-induced severe autonomic neuropathy

Characteristic clinical and ultrastructural findings in nesprinopathies

Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

Conduction block in PMP22 deficiency.

Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.

Differential Glial Chitotriosidase 1 and Chitinase 3-like Protein 1 Expression in the Human Primary Visual Cortex and Cerebellum after Global Hypoxia-Ischemia

Diseases of the peripheral nerves.

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.

Endothelial damage, vascular bagging and remodeling of the microvascular bed in human microangiopathy with deep white matter lesions

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Glycogenosome accumulation in the arrector pili muscle in Pompe disease

Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances

Macrophage Depletion Ameliorates Peripheral Neuropathy in Aging Mice.

Monitoring α-synuclein multimerization in vivo

Myelinating Glia-Specific Deletion of Fbxo7 in Mice Triggers Axonal Degeneration in the Central Nervous System Together with Peripheral Neuropathy

Neuropathy in a human without the PMP22 gene.

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

PMP22 expression in dermal nerve myelin from patients with CMT1A.

Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation

Reduced intraepidermal nerve fiber density in patients with REM sleep behavior disorder

Regulation of endoplasmic reticulum turnover by selective autophagy

Role of endogenous cannabinoids in synaptic signaling

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.

Small-fiber neuropathy in patients with ALS

Small-fiber neuropathy with cardiac denervation in postural tachycardia syndrome

Spinal cord organotypic slice cultures for the study of regenerating motor axon interactions with 3D scaffolds.

Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.

Towards a functional pathology of hereditary neuropathies

Transcriptional regulator PRDM12 is essential for human pain perception