Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+

Is Alzheimer's Disease a Disorder of Mitochondria-Associated Membranes?

(2017) Eric A. Schon et al.   JOURNAL OF ALZHEIMERS DISEASE

Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration

(2014) Arcangela Iuso et al.   PLoS One

The endoplasmic reticulum–mitochondria connection: One touch, multiple functions

(2013) Saverio Marchi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The structure and regulation of magnesium selective ion channels

(2013) Jian Payandeh et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

C19orf12 mutation leads to a pallido-pyramidal syndrome

(2013) Michael C. Kruer et al.   GENE

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

(2013) Guida Landouré et al.   HUMAN MUTATION

Autophagosomes form at ER–mitochondria contact sites

(2013) Maho Hamasaki et al.   NATURE

Subcellular calcium measurements in mammalian cells using jellyfish photoprotein aequorin-based probes

(2013) Massimo Bonora et al.   Nature Protocols

Iron metabolism in the CNS: implications for neurodegenerative diseases

(2013) Tracey A. Rouault   NATURE REVIEWS NEUROSCIENCE

Substitution p.A350V in Na+/Mg2+ Exchanger SLC41A1, Potentially Associated with Parkinson's Disease, Is a Gain-of-Function Mutation

(2013) Martin Kolisek et al.   PLoS One

Guidelines for the use and interpretation of assays for monitoring autophagy

(2012) Daniel J. Klionsky et al.   Autophagy

Spatial distribution of cytoplasmic domains of the Mg2+-transporter MgtE, in a solution lacking Mg2+, revealed by paramagnetic relaxation enhancement

(2012) Shunsuke Imai et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Review: Membrane-associated misfolded protein propagation in natural transmissible spongiform encephalopathies (TSEs), synthetic prion diseases and Alzheimer's disease

(2012) M. Jeffrey   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

An international registry for neurodegeneration with brain iron accumulation

(2012) Bernadette Kalman et al.   Orphanet Journal of Rare Diseases

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

(2012) Celeste Panteghini et al.   Seminars in Pediatric Neurology

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Calcium signaling around Mitochondria Associated Membranes (MAMs)

(2011) Simone Patergnani et al.   Cell Communication and Signaling

Enhancement of Learning and Memory by Elevating Brain Magnesium

(2010) Inna Slutsky et al.   NEURON

Mg2+-dependent gating of bacterial MgtE channel underlies Mg2+ homeostasis

(2009) Motoyuki Hattori et al.   EMBO JOURNAL

Isolation of mitochondria for biogenetical studies: An update

(2009) Erika Fernández-Vizarra et al.   MITOCHONDRION

Isolation of mitochondria-associated membranes and mitochondria from animal tissues and cells

(2009) Mariusz R Wieckowski et al.   Nature Protocols

Validation of protein models by a neural network approach

(2008) Paolo Mereghetti et al.   BMC BIOINFORMATICS

The Neurological Presentation of Ceruloplasmin Gene Mutations

(2008) Alisdair McNeill et al.   EUROPEAN NEUROLOGY