Rolf Stucka

A bioinorganic view on the potential chemical space of hydroxyphenylpyruvate dioxygenase-like (HPDL) enzymes

Niko S. W. Lindlar, Rolf Stucka, Sophie M. Gutenthaler-Tietze, Jonathan Gutenthaler‐Tietze et autres

Abstract Genetic analyses have identified biallelic variants in the 4-hydroxyphenylpyruvate dioxygenase-like ( HPDL ) gene as the cause of a neurodegenerative disease that resembles the primary coenzyme Q10 (CoQ10) deficiency syndromes. HPDL is structurally similar to the well-studied 4-hydroxyphenyl pyruvate dioxygenase (HPPD), …

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A bioinorganic view on the potential chemical space of hydroxyphenylpyruvate dioxygenase- like (HPDL) enzymes

Niko S. W. Lindlar, Rolf Stucka, Sophie M. Gutenthaler-Tietze, Jan Senderek et autres

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HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy

Andreas Roos, Martin Häusler, Laxmikanth Kollipara, Ana Töpf et autres

HNRNPA1 variants are known to cause degenerative motoneuron and muscle diseases which manifests in middle age or later. We report on a girl with early childhood onset, rapidly progressive generalized myopathy including ultrastructural findings in line with a proteinopathy. Proteomics of patient-derived …

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The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis

Julia Zibold, Lola Lessard, Flavien Picard, Lara A. Gruijs da Silva et autres

TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report a …

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Annette Lischka, Katja Eggermann, Christopher J. Record, Maike Franziska Dohrn et autres

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports …

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni et autres

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S. Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M. Santorelli, Ahmed A. Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R. Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, …

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni et autres

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity …

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TDP43-Varianten bei autosomal dominanter distaler Myopathie

J Zibold, M Wiessner, A Topf, P. Petiot et autres

Einleitung: TDP43-Varianten verursachen eine familiäre Form der amyotrophen Lateralsklerose (ALS). Auch bei anderen erblichen und den häufigeren sporadischen ALS-Formen finden sich TDP43-Aggregate in Motoneuronen. Darüber hinaus sind TDP43-positive Ablagerungen im Skelettmuskel von Patienten mit Einschlusskörpermyositis nachweisbar. Wir haben überprüft, ob TDP43-Varianten hereditäre …

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

Luca Bartesaghi, Yiqiao Wang, Paula Aldana Fontanet, Simone Wanderoy et autres

The sensation of pain is essential for the preservation of the functional integrity of the body. However, the key molecular regulators necessary for the initiation of the development of pain-sensing neurons have remained largely unknown. Here, we report that, in mice, inactivation …

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Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein, Maha Saad Zaki et autres

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MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy

Matthias Baumann, Herbert Schreiber, Beate Schlotter‐Weigel, Wolfgang N. Löscher et autres

MPV17 encodes a putative channel-forming protein of the inner mitochondrial membrane and is involved in mitochondrial deoxynucleotide homeostasis. MPV17 mutations were first reported in patients with Navajo neurohepatopathy, an autosomal recessive mitochondrial DNA depletion syndrome, characterized by early-onset liver failure, failure to …

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Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan et autres

Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with …

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