• An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families 

  Koko, Mahmoud; Yahia, Ashraf; Elsayed, Liena E; Hamed, Ahlam A; Mohammed, Inaam N; Elseed, Maha A; Hamad, Muddathir H A; Babai, Arwa M; Siddig, Rayan A; Abd Allah, Amal S I; Mohamed, Mayada; El-Amin, Melka; Esteves, Typhaine; Altmüller, Janine; Toliat, Mohammad Reza; Thiele, Holger; Nürnberg, Peter; Ahmed, Ammar E; Salih, Mustafa A; Stevanin, Giovanni (Ann Hum Genet ., 2021)

  PRUNE1 is linked to a wide range of neurodevelopmental and neurodegenerative phenotypes. Multiple pathogenic missense and stop-gain PRUNE1 variants were identified in its DHH and DHHA2 phosphodiesterase domains. Conversely, ...
• Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia 

  Yahia, Ashraf; Elsayed, Liena E. O.; Valter, Remi; Hamed, Ahlam A. A.; Mohammed, Inaam N.; Elseed, Maha A.; Salih, Mustafa A.; Esteves, Typhaine; Auger, Nicolas; Abubaker, Rayan; Koko, Mahmoud; Abozar, Fatima; Malik, Hiba; Adil, Rawaa; Emad, Sara; Musallam, Mhammed Alhassan; Idris, Razaz; Eltazi, Isra Z. M.; Babai, Arwa; Ahmed, Elhami A. A.; Abd Allah, Amal S. I.; Mairey, Mathilde; Ahmed, Ahmed K. M. A.; Elbashir, Mustafa I.; Brice, Alexis; Ibrahim, Muntaser E.; Ahmed, Ammar E.; Lamari, Foudil; Stevanin, Giovanni (Frontiers in Neurology, 2021)

  Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in ...
• Fetal Biometry of Pregnant Women in Khartoum State, Central Sudan(LB64) 

  Mokhtar, Ahmed E.; Mustafa, Wegdan M.; Ali, Qurashi (The FASEB Journal, 2014)

  Ultrasonic measurement of fetal Femur Length(FL) and Bi-Partial Diameter(BPL) is a precise tool for estimation of fetal growth and development. Accurate estimation of gestational age is vital for efficient obstetric planning ...
• The effect of sex and age on cortical grey and white matter volumes of frontal lobe 

  Ahmed, Wegdan; Osman, Tahir; Sahin, Bunyamin; Elfaki, Amani (Journal of Experimental and Clinical Medicine, 2021)

  Grey matter (GM) of the frontal lobe carries out its complex function such as muscle control, speech, decision making, and self-control; while the white matter (WM) of frontal lobe is a major contributor to human brain ...
• Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 

  Cauley, Edmund S; Hamed, Ahlam; Mohamed, Inaam N.; Elseed, Maha; Martinez, Samantha; Yahia, Ashraf; Abozar, Fatima; Abubakr, Rayan; Koko, Mahmoud; Elsayed, Liena; Piao, Xianhua; Salih, Mustafa A.; Manzini, M Chiara (Neurogenetics, 2019)

  Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present ...
• A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report 

  Yahia, Ashraf; Chen, Zhefan Stephen; Ahmed, Ammar E.; Emad, Sara; Adil, Rawaa; Abubaker, Rayan; Taha, Shaimaa Omer M. A.; Salih, Mustafa A.; Elsayed, Liena; Chan, Ho Yin Edwin; Stevanin, Giovanni (BMC Neurology, 2021)

  Background: CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal ...
• Novel homozygous missense mutation in the ARG1 gene in a large Sudanese family 

  Elsayed, Liena E. O.; Mohammed, Inaam N.; Hamed, Ahlam A. A; Elseed, Maha A.; Salih, Mustafa A. M.; Yahia, Ashraf; Abubaker, Rayan; Koko, Mahmoud; Abd Allah, Amal S. I.; Elbashir, Mustafa I; Ibrahim, Muntaser E.; Brice, Alexis; Ahmed, Ammar E.; Stevanin, Giovanni (Frontiers in Neurology, 2020)

  Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves ...
• The history of gene hunting in hereditary spinocerebellar degeneration: lessons from the past and future perspective 

  Yahia, Ashraf; Stevanin, Giovanni (Frontiers in Genetics, 2021)

  Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and management in daily clinical practice. Correct ...
• Functional and Genetic Studies in Type 2 Diabetes and Obesity 

  Seed Ahmed, Mohammed Hamza Z. E (Karolinska Institutet, 2013)

  Type 2 diabetes (T2D) and obesity are highly prevalent disorders reflecting a complex interplay of genetics, epigenetics, and environment. They constitute serious health problems and lead to significant morbidity and ...
• Increased expression of adenylyl cyclase 3 in pancreatic islets and central nervous system of diabetic Goto-Kakizaki rats 

  Seed Ahmed, Mohammed; Kovoor, Abraham; Nordman, Sofia; Abu Seman, Norhashimah; Gu, Tianwei; Efendic, Suad; Brismar, Kerstin; Östenson, Claes-Göran; Gu, Harvest F. (Islets, 2012)

  Adenylyl cyclase 3 (AC3) is expressed in pancreatic islets of the Goto-Kakizaki (GK) rat, a spontaneous animal model of type 2 diabetes (T2D), and also exerts genetic effects on the regulation of body weight in man. In ...
• Lower succinyl-CoA:3-ketoacid-CoA transferase (SCOT) and ATP citrate lyase in pancreatic islets of a rat model of type 2 diabetes: Knockdown of SCOT inhibits insulin release in rat insulinoma cells 

  Hasan, Noaman M.; Longacre, Melissa J.; Seed Ahmed, Mohammed; Kendrick, Mindy A.; Gu, Harvest; Ostenson, Claes-Goran; Fukao, Toshiyuki; MacDonald, Michael J. (Archives of Biochemistry and Biophysics, 2010)

  Succinyl-CoA:3-ketoacid-CoA transferase (SCOT) is a mitochondrial enzyme that catalyzes the reversible transfer of coenzyme-A from acetoacetyl-CoA to succinate to form acetoacetate and succinyl-CoA. mRNAs of SCOT and ATP ...
• Pharmacological Modulations of the Serotonergic System in a Cell-Model of Familial Alzheimer’s Disease 

  Tajeddinn, Walid; Persson, Torbjorn; Calvo-Garrido, Javier; Seed Ahmed, Mohammed; Maioli, Silvia; Vijayaraghavan, Swetha; Kazokoglu, Mehmet Selim; Parrado-Fernandez, Cristina; Yoshitake, Takashi; Kehr, Jan; Francis, Paul; Winblad, Bengt; Hoglund, Kina; Cedazo-Minguez, Angel; Aarsland, Dag (Journal of Alzheimer’s Disease, 2016)

  Serotonin (5-HT) plays a central role in the integrity of different brain functions. The 5-HT homeostasis is regulated by many factors, including serotonin transporter (SERT), monoamine oxidase enzyme (MAO), and several ...
• Non-specific Detection of a Major Western Blotting Band in Human Brain Homogenates by a Multitude of Amyloid Precursor Protein Antibodies 

  Haytural, Hazal; Lundgren, Jolanta L; Kose, Tansu B; Jordà-Siquier, Tomàs; Kalcheva, Marinela; Seed Ahmed, Mohammed; Winblad, Bengt; Sundström, Erik; Barthet, Gael; Tjernberg, Lars O.; Frykman, Susanne (Frontiers, 2019)

  The use of human post-mortem brain material is of great value when investigating which pathological mechanisms occur in human brain, and to avoid translational problems which have for example been evident when translating ...
• In transition: current health challenges and priorities in Sudan 

  Charani, Esmita; Cunnington, Aubrey J; Yousif, AlaEldin H A; Seed Ahmed, Mohammed; Ahmed, Ammar E M; Babiker, Souad; Badri, Shahinaz; Buytaert, Wouter; Crawford, Michael A; Elbashir, Mustafa I; Elhag, Kamal; Elsiddig, Kamal E; Hakim, Nadey; Johnson, Mark R; Miras, Alexander D; Swar, Mohamed O; Templeton, Michael R; Taylor-Robinson, Simon David (BMJ Global Health, 2019)

  A recent symposium and workshop in Khartoum, the capital of the Republic of Sudan, brought together broad expertise from three universities to address the current burden of communicable and non-communicable diseases ...
• Genetic Association of Adrenergic Receptor Alpha 2a with Obesity and Type 2 Diabetes 

  La˚ ngberg, Ewa-Carin; Seed Ahmed, Mohammed; Efendic, Suad; Gu, Harvest F.; Ostenson, Claes-Goran (Obesity, 2013)

  Objective: The sympathetic nervous system (SNS) is linked to glucose, lipid, and protein metabolism. The a2A-adrenergic receptor (ADRA2A) is involved in the SNS and mediates inhibition of insulin secretion and lipolysis. ...
• Expression of Protein Kinase C Isoforms in Pancreatic Islets and Liver of Male GotoKakizaki Rats, a Model of Type 2 Diabetes 

  Seed Ahmed, Mohammed; Pelletier, Julien; Leumann, Hannes; Gu, Harvest F.; Östenson, Claes-Göran (PLOS ONE, 2015)

  Protein kinase C (PKC) is a family of protein kinases controlling protein phosphorylation and playing important roles in the regulation of metabolism. We have investigated expression levels of PKC isoforms in pancreatic ...
• Association of Platelet Serotonin Levels in Alzheimer’s Disease with Clinical and Cerebrospinal Fluid Markers 

  Tajeddinn, Walid; Fereshtehnejad, Seyed-Mohammad; Seed Ahmed, Mohammed; Yoshitake, Takashi; Kehr, Jan; Shahnaz, Tasmin; Milovanovic, Micha; Behbahani, Homira; Hoglund, Kina; Winblad, Bengt; Cedazo-Minguez, Angel; Jelic, Vesna; Jaremo, Petter; Aarsland, Dag (Journal of Alzheimer’s Disease, 2016)

  Introduction: Serotonin (5-HT) is involved in the pathology of Alzheimer’s disease (AD). Objective: We aimed to measure 5-HT level in platelets in AD and explore its association with cerebrospinal fluid (CSF), AD biomarkers ...
• Adenylate cyclase 3: a new target for anti-obesity drug development 

  Wu, L.; Shen, C.; Seed Ahmed, M.; Östenson, C.-G.; Gu, H. F. (obesity reviews, 2016)

  Obesity has become epidemic worldwide, and abdominal obesity has a negative im- pact on health. Current treatment options on obesity, however, still remain limited. It is then of importance to find a new target for ...
• Nerve conduction and its correlations with duration of diabetes mellitus and glycosylated haemoglobin in type 2 diabetes mellitus (T2DM) 

  Hamid, Wissam S; Ahmed, Humeda S; Osman, Mona A; Babiker, Rasha (Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2021)

  Background: Diabetic neuropathy is one of the most common microvascular complications associated with diabetes mellitus. Diabetic peripheral neuropathy (DPN) has been linked to hyperglycaemia and long duration of uncontrolled ...
• Why Did Sudanese End Stage Renal Failure Patients Refuse Renal Transplantation? 

  Banaga, Amin S.; Mohammed, Elaf B.; Siddig, Rania M.; Salama, Diana E.; Elbashir, Sara B.; Khojali, Mohamed O.; Babiker, Rasha A.; Elmusharaf, Khalifa; Homeida, Mamoun M. (Open Journal of Nephrology, 2015)

  Renal transplantation remains the most effective treatment of End Stage Renal Failure (ESRF). In this cross sectional study we explore the reasons behind refusal of renal transplantation among adults’ Sudanese haemodialysis ...

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